Cataracts, Congenital, with Cleft Palate
Patient Information
Characteristics
Background and History
A single four generation family with this combination of findings was reported in 2011.
Clinical Correlations
The characteristics of the lens opacities (cataract) are unknown but they are present at birth. The upper eyelids seem thickened and the opening between the lids is narrowed and slants upward. The forehead is prominent, the nose is long, and the mouth opening spears small. Some anomaly of the palate is always present ranging from minor sub-mucous to full splitting (cleft palate). The fingers may be long and thin.
Genetics
Inheritance
From the single large pedigree reported, the transmission pattern suggests autosomal dominant inheritance. It would be reasonable to expect that half of the offspring of affected parents would also be affected. However, no gene mutation has been identified.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
There are no known blood tests that aid in the diagnosis. Longevity seems to be normal and general health remains good throughout life. Cleft palate and cataracts can be treated surgically with good results.
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