Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 15/04/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 22/04/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 29/04/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 06/05/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 13/05/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 20/05/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 27/05/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 03/06/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 10/06/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 17/06/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 24/06/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 01/07/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 08/07/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 15/07/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 22/07/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 29/07/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 05/08/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 12/08/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 19/08/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 26/08/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 02/09/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 09/09/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 16/09/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 23/09/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 30/09/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 07/10/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 14/10/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 21/10/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 28/10/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 04/11/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 18/11/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 25/11/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 02/12/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 09/12/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 16/12/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 23/12/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 30/12/2007

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 06/01/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 13/01/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 20/01/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 27/01/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 03/02/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 10/02/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 17/02/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 24/02/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 02/03/2008

Orphanet database access

Orphanet database access

Caudal regression sequence Direct access to data Clinical signs Amyotrophy/muscle agenesis Dislocated hip Intervertebral disk anomaly Sacrococcyx agenesis Talipes-varus/valgus Areflexia/hyporeflexia Imperforate anus/anal stenosis Insensitivity to pain Malrotation/duplication of the gut Megauretere/hydronephrosis Paraparesis/quadraparesis Renal failure Abnormal vertebral size/shape Agenesis/hypoplasia of kidneys Auricular Septal Defect Cerebellum agenesis/hypoplasia Cleft lip lateral Cleft palate Coarctation of the aorta Communicating hydrocephaly Diaphragmatic hernia/defect Hypoplastic lungs Low set ears Meningocele Pulmonary valve/artery stenosis Renal cyst (single) Spina bifida Tracheo-oesophageal fistula Update : 09/03/2008

Orphanet database access