Focal dermal hypoplasia;
Goltz-Gorlin syndrome

Focal dermal hypoplasia, also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly, polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are frequently reported. Mutations in the PORCN gene has been shown to cause the disease.

Skin and connective tissue disease; Skeletal dysplasia; Eye disease

PORCN [HSA:64840] [KO:K00181]

PMID:22250236 (description)

Maalouf D, Megarbane H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Megarbane A

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

Arch Dermatol 148:85-8 (2012)

PMID:18325042 (description, gene)

Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Clin Genet 73:373-9 (2008)

PMID:21472892 (gene)

Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC

Mutation update for the PORCN gene.

Hum Mutat 32:723-8 (2011)