| umls-concept:C0016395 | skos:definition | MSH: A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.,JABL: Multiple abnormalities with a variable expression consisting mainly of asymmetry of the face, trunk, and extremities; atrophy, telangiectasia, pigmentation disorders, and localized fat deposits in the skin; multiple mucous and perioral papillomas; and skeletal abnormalities involving the extremities. Mild mental deficiency occurs in about 15%.,NCI: A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations. | lld:umls |
