focal dermal hypoplasia (DOID:2120)
Alliance: disease page
Synonyms: FDH; FODH; Goltz syndrome; Goltz-Gorlin syndrome
Alt IDs: OMIM:305600, MESH:D005489, NCI:C84715, ORDO:2092, UMLS_CUI:C0016395
Definition: A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.