There are two distinct genetic mutations associated with the<unk>  phenotype, which suggests the disorder may be genetically heterogeneous. OMIM Gene Description FGFR2 Mutations found in the FGFR2 gene have been shown to cause synostosis and other formal skeletal, polydactylic and syndactylic abnormalities found in<unk><unk>  and similar disorders. POR A missense mutation in the cytochrome P450 reductase (POR) gene results in abnormal steroidogenesis related to the genital malformations often found in<unk><unk> . In OMIM, this is classified as an<unk> -like phenotype" and not as<unk>  itself.<unk>  is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but are usually not affected by the disorder.
Antley–Bixler syndrome
Witteveen–Kolk syndrome
Cohen-Gibson syndrome
Young–Simpson syndrome
Galloway Mowat syndrome
Mungan syndrome
Zechi-Ceide syndrome
Laugier–Hunziker syndrome