FOCAL DERMAL HYPOPLASIA SYNDROME

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Abstract
1. Focal Dermal Hypoplasia (FDH), a congenital dysplasia of ectodermal and mesodermal structures, has protean manifestations. 2. The patients are almost exclusively Caucasian females. 3. Clinically, this condition can be identified by the typical skin lesions. These are often accompanied by ocular anomalies, such as colobomas, and malformed ear or nasal cartilages. 4. The only definitive test for this condition, to date, is skin biopsy. 5. This syndrome should be suspected roentgenologically when there are asymmetric anomalies of size, shape and number involving the axial or appendicular skeleton. The combination of syndactyly and anomalous dentition is typical. While rare, a rudimentary tail and a hypoplastic or aplastic clavicle may also point to the diagnosis. 6. On the basis of limited genetic data, it is postulated that the FDH syndrome may be inherited as an X-linked dominant trait.

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