Focal Dermal Hypoplasia (FDH)

Focal Dermal Hypoplasia, also known as goltz syndrome, is related to split hand-foot malformation and coloboma of macula. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and abnormality of the nail