Apert syndrome

Apert syndrome (ACPS I) is characterized by craniofacial bodily deformities due to a mutation of the FGFR2 gene on chromosome 10.

Patients have abnormalities of the head, face, neck, limbs, bones and problems in social and emotional development.

Possible symptoms include fused cranial sutures and the formation of hydrocephalus, open cleft palate, visual and auditive impairment, maxillary malformations, coalesced fingers and toes, missing or stiffened middle joints, scoliosis, movement restrictions of the joints and much more.

The inheritance is autosomal dominant.