Chorioretinal dysplasia, lymphedema, and microcephaly
Patient Information
Characteristics
Background and History
The presence of a small head at birth may be due to many causes including gene mutations. Several types are associated with changes in the retina of the eye. In the condition described here, there is often excess fluid in tissues, especially the skin.
Clinical Correlations
Infants are born with small heads and edema (fluid) in the skin. The latter is evident from the ‘puffy’ appearance of the face especially around the eyes which temporarily may not open completely. The hands and feet also appear swollen. This excess fluid becomes less evident during the first decade of life and may later be confined to the back of the hands and the top of the feet. The ears may appear large, the nose is often broad with a narrow base, and the chin may be pointy and shortened.
The retina is usually abnormal with unusual pigmentary changes and the optic nerve can be pale. Vision is often below normal and may be severely deficient. Psychomotor development is frequently delayed and, while intelligence can be normal, mental retardation, seizures, and other neurological abnormalities have been reported in some patients.
Genetics
Inheritance
The combination of small heads, retinal changes, and lymphedema likely represents several disorders. So far no gene mutation has been found although the family pattern suggests an autosomal dominant disorder in which affected parents can expect that half their children will inherit 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 prognosis for a normal life is excellent in many patients. However, special care may be required for those individuals who have mental, visual, or other neurological handicaps. The diagnosis may be made by collaboration among pediatricians, neurologists, and ophthalmologists.
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