Mutations in the FGFR3 gene cause<unk> . The protein made by the FGFR3 gene is a receptor that plays a role in the development and maintenance of bone and brain tissue. Researchers do not know how a mutation in FGFR3 leads to the characteristic features of this disorder, but changes in the receptor appear to disrupt the normal development of bones in the skull and affect skin pigmentation. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Crouzonodermoskeletal syndrome
MEDNIK syndrome
Kufor–Rakeb syndrome
Hallermann–Streiff syndrome
Foster Kennedy syndrome
Rotor syndrome
Emery–Dreifuss muscular dystrophy
Ardalan–Shoja–Kiuru syndrome