Simpson-Golabi-Behmel Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities.

**Synonyms:** - Simpson Dysmorphia Syndrome