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Focal dermal hypoplasia

Disease Export to PDF
Name:
Focal dermal hypoplasia
Description:
A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.
ORPHAcode:
2092
Synonyms:
Goltz syndrome
Goltz-Gorlin syndrome
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
Analyte(s):
PORCN
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14