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Microphthalmia, Lenz type

Orpha number ORPHA568
Prevalence of rare diseases Unknown
Inheritance
  • X-linked recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Lenz microphthalmia
MCOPS1
Syndromic microphthalmia , type 1

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)*.

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
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