Diseases Studied

Also known as acrocephalosyndactyly

Apert syndrome is a genetic syndrome characterized by anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.

Also known as acrocephalosyndactyly Type V

Pfeiffer syndrome is a genetic disorder characterized by the anomalies of the skull, face, and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand, and foot bones. Craniofacial differences are similar to those seen in Apert syndrome.

Also known as craniofacial dysotosis

Crouzon syndrome is a genetic syndrome in which the seams of the skull fuse in abnormally. This affects the shape of the head and face. It is the most common type of syndromic craniosynostosis. Gene mutations are responsible for the abnormal skull fusions. Crouzon syndrome shares many of the same features as Apert syndrome.

Also known as FGFR3-associated coronal synostosis syndrome

Muenke syndrome is a genetic disorder characterized by the anomalies if the skull and face. Gene mutations are the cause if these skull and face differences.

Saethre-Chotzen syndrome is a genetic disorder characterized by varied and broad skull, face, and limb anomalies. TWIST gene mutations are responsible for causing the early fusion of the skull.