Craniofacial-Deafness-Hand Syndrome
Patient Information
Characteristics
Background and History
This is a rare inherited disorder of facial and limb bones.
Clinical Correlations
The face often appears rather “flat” which is secondary to underdevelopment of facial bones including the sinuses. The forehead may appear prominent and often the jaw is small. The root of the nose is broad and underdeveloped. The hard palate is often highly arched and may be clefted. The eyelid openings slant downwards and the eyes appear far apart.
The arms and fingers may also be anomalous. The hand is often deviated to the side towards the little finger and may lack full flexibility. The finger bones can be mildly malformed and also do not have full range of motion due to contractures. Hearing loss is common and there are no cognitive deficits.
Genetics
Inheritance
This is an autosomal dominant condition in which transmission is vertical, that is, the condition is passed directly from parent to child with a 50% probability in each generation.
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 likely requires a collaborative effort among pediatricians, orthopedists, and ophthalmologists. Most patients function normally with minimal handicaps and there is no evidence that longevity is impacted.
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