Several mutations in the FGFR2 gene (a gene coding for a protein called fibroblast growth factor receptor 2, which is involved in important signaling pathways) are known to cause<unk> ; however, not all patients with the condition have a mutation in their FGFR2 gene. Any alternative underlying causes are currently unidentified. The syndrome follows an autosomal dominant pattern, meaning that if one of the two available genes carries a mutation the syndrome will result. Currently, no familial histories are known (in other words, there are no reports of cases in which a parent carrying a mutation in their FGFR2 gene then propagated said mutation to his or her child).
Beare–Stevenson cutis gyrata syndrome
Van Wyk and Grumbach syndrome
Cruveilhier–Baumgarten disease
Johnson–McMillin syndrome
Peters-plus syndrome
Bogart–Bacall syndrome
McGillivray syndrome
Vogt–Koyanagi–Harada disease