Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 15/04/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 22/04/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 29/04/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 06/05/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 13/05/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 20/05/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 27/05/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 03/06/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 10/06/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 17/06/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 24/06/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 01/07/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 08/07/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 15/07/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 22/07/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 29/07/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 05/08/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 12/08/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 19/08/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 26/08/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 02/09/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 09/09/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 16/09/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 23/09/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 30/09/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 07/10/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 14/10/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 21/10/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 28/10/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 04/11/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 18/11/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 25/11/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 02/12/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 09/12/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 16/12/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 23/12/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 30/12/2007

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 06/01/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 13/01/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 20/01/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 27/01/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 03/02/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 10/02/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 17/02/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 24/02/2008

Orphanet database access

Orphanet database access

Microphthalmia, Lenz type Direct access to data Summary Lenz's micropthalmos is characterized by coloboma, microphthalmia (97% of cases) and cataract, or sometimes anophthalmia. Other associated signs include skeletal and/or digital abnormalities (97%) affecting the clavicles and thumbs (clinodactily), intellectual deficit and growth disorders (66%), microcephaly (55%), detached ears (53%), hollow palate and dental abnormalities (45%), renal hypoplasia (37%), cryptorchidism (34%), and congenital cardiopathy (8%). It is an X-linked inherited syndrome. Each disorder must be treated specifically. *Author: Dr O. Roche (July 2005)*. Clinical signs Microphthalmos X-linked recessive inheritance Abnormal dental position Long/large ear Mental retardation(mild) Microcephaly Preauricular pits Preauricular tags Tooth shape anomaly Clavicle absent/abnormal Cleft palate Clinodactyly of fifth finger Clinodactyly of toes Congenital cardiac anomaly Ectopic/horseshoe/fused kidneys High vaulted/narrow palate Hypospadias/epispadias Increased body hair Kiphosis Late eruption of teeth Sacral sinus/dimple Scoliosis Short stature/dwarfism Simian crease Speech defect Squint/paresis of ocular muscles Syndactyly of toes Undescended/ectopic testes Ureteric anomalies(reflux/duplex system) Webbed neck Update : 02/03/2008

Orphanet database access