What does focal dermal hypoplasia mean?

Definitions for focal dermal hypoplasia

Here are all the possible meanings and translations of the word focal dermal hypoplasia.

Freebase

  1. 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

  1. 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.

Numerology

  1. Chaldean Numerology

    The numerical value of focal dermal hypoplasia in Chaldean Numerology is: 7

  2. Pythagorean Numerology

    The numerical value of focal dermal hypoplasia in Pythagorean Numerology is: 5

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