In approximately 50 percent of the cases, affected individuals may have congenital heart defects. Cleft lip and palate are common congenital malformations. A cleft is an incomplete closure of the palate or lip, or both. The cleft might be barely noticeable or result in severe deformities requiring surgical correction. This genetic disorder is characterized by abnormalities in the skull and facial bones due to craniosynostosis.
Mental development is most often normal.
In rare cases, visual difficulties and deafness can develop. A very rare genetic disorder, Pfeiffer syndrome is characterized by abnormalities of the head and facial area and distinctive malformations of the fingers and toes. Intelligence is usually normal, but mild to moderate mental delays may occur. Craniosynostosis surgery is commonly offered to correct the cosmetic deformity of the skull and face. The timing and type of surgery is very much dependent on the type of synostosis and the preference of the surgeon.