Cataracts, Congenital, Deafness, Short Stature, Developmental Delay
Patient Information
Characteristics
Background and History
This is a rare, recently reported multisystem hereditary condition.
Clinical Correlations
The facial features are characteristic, often resembling those of Down syndrome. The eye openings may be slanted upwards or downwards and epicanthal folds (skin fold between the nose and eyelids) may be present. The upper eyelids seem to droop (ptosis). Cataracts are often present and indeed can develop in utero and be present at birth. The mouth appears small, the nasal tip is shortened. The skull is often shortened from front to back and the face appears flattened.
There is virtually always some intellectual impairment and some patients have seizures. There is also physical growth delay resulting in short stature. The ears are set low and may be rotated towards the back of the head. Hearing loss is commonly present. Some patients have fusion of the long bones of the forearm while others have a hip dysplasia requiring replacement. The joints sometimes have limited motion. Some of the teeth are smaller than normal while the nails are irregular.
Genetics
Inheritance
This is an autosomal dominant condition as the result of mutations in a gene. Few patients have had offspring but at least one mildly affected mother has had an affected child with the same condition. It would be expected that half of the children of an affected parent would have the same condition.
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
The diagnosis could be suspected at birth by a pediatrician or medical geneticist. A study of the chromosomes (karyotype) is necessary to rule out Down syndrome. Other members of the medical team would likely be an orthopedist, an ophthalmologist, a neurologist, a nutritionist and a hearing specialist.
An insufficient number of cases have been reported to consider that all of the varied features have been reported. Depending on the severity of the physical problems most individuals likely can live to at least the third or fourth decades.
No general treatment is available for this generalized condition. Cataract removal may be indicated in some individuals when the lens clouding is severe. Hearing devices may also be beneficial. Joint surgery could be helpful in selected cases. Special education should be considered in selected individuals. Seizure treatment should be considered where applicable.
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