n. any of several related inherited disorders (all dominant traits) that cause abnormalities of the skull, face, hands, and feet.
Apert syndrome, Apert–Crouzon syndrome, and
Pfeiffer’s syndrome (acrocephalosyndactyly Types I, II, and V) are due to different mutations in the
FGFR2 gene (encoding fibroblast growth factor receptor) on chromosome 10.
Chotzen’s syndrome (Type III) is due to a mutation in the
TWIST gene on chromosome 7 (locus 7p21.3–21.2), which affects the expression of
FGFR2.