Focal dermal hypoplasia (FDH), 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 have been shown to cause the disease.
