Definitions for focal dermal hypoplasia
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Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia. It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin. It has been associated with PORCN gene mutations on the X chromosome. The differential diagnosis of focal dermal hypoplasia syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations; a syndrome of focal dermal hypoplasia, morning glory anomaly, and polymicrogyria; incontinentia pigmenti; oculocerebrocutaneous syndrome; Rothmund-Thomson syndrome; and MLS syndrome caused by deletions or point mutations in the HCCS gene.
U.S. National Library of Medicine
Focal Dermal Hypoplasia
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.
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