Cataracts, Congenital, with Cleft Palate

Clinical Characteristics
Ocular Features: 

Bilateral congenital cataracts are usually present together with upward-slanting and narrowed lid fissures.  The upper eyelids appear abnormally thick and epicanthus is common.  Nothing is known about the location or morphology of the lens opacities.

Systemic Features: 

Anomalies of the palate consisting of clefting, bifid uvula, and sub-mucous clefts are consistently present.  Oral anomalies such as thickening of the lower lid and small mouth are commonly seen.  The nose may be both long and broad.  The face usually appears oval and the forehead is prominent.  A cartilaginous nodule often appears on the helix of low-set and anteriorly rotated ears.  The fingers may be long and thin.

No cardiac or neurologic defects have been reported.


Based on the transmission pattern in the single 4 generation family reported, autosomal dominant inheritance is likely.  Array comparative genomic hybridization revealed an interstitial amplification at Xp21.1 but this did not segregate precisely with the clinical pattern and is possibly a copy number polymorphism.  Both sexes are about equally affected. 

Treatment Options: 

No data on vision or surgical treatment have been reported but surgery for cleft palate and cataracts may be indicated.

Article Title: 


Fran?ssois-Fiquet C, Wavreille O, Poli Merol ML, Doco-Fenzy M. Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome? Br J Oral Maxillofac Surg. 2011 Dec 5. [Epub ahead of print]

PubMedID: 22153181