Acrocephalosyndactyly is a genetic disorder that affects the development of the skull and limbs. The term comes from the Greek words "acros," meaning extremity, "cephale," meaning head, and "syndactylia," meaning webbed or fused fingers or toes.
There are several types of acrocephalosyndactyly, but the most common is Type 1, also known as Apert syndrome. People with Apert syndrome have a characteristic appearance, including a high, prominent forehead (acrocephaly), widely spaced eyes (hypertelorism), and underdeveloped upper jaw and midface (maxillary hypoplasia). They also have webbed or fused fingers and toes (syndactyly) and may have other skeletal abnormalities.
Acrocephalosyndactyly is caused by a mutation in the FGFR2 gene, which provides instructions for making a protein that is involved in the development of bones and tissues. The mutation leads to overactive signaling of the FGFR2 protein, which can cause abnormal bone growth and fusion.
Treatment for acrocephalosyndactyly typically involves a team of specialists, including geneticists, orthopedic surgeons, craniofacial surgeons, and other healthcare professionals. Surgery may be necessary to correct skeletal abnormalities, improve function, and enhance appearance. Speech therapy, occupational therapy, and other supportive care may also be recommended.