Acrocephalosyndactyly

Acrocephalosyndactyly (pronounced: ak-roh-sef-uh-loh-sin-dak-tuh-lee) is a rare genetic disorder that affects the development of the skull, face, and limbs.

Etymology

The term "Acrocephalosyndactyly" is derived from the Greek words "akron" meaning peak, "kephale" meaning head, and "syndactyly" meaning fused digits.

Definition

Acrocephalosyndactyly is characterized by the premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and affects the shape of the head and face. It also typically involves fusion or webbing of certain fingers or toes (syndactyly).

Types

There are several types of Acrocephalosyndactyly, including Apert syndrome, Carpenter syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. Each type has specific characteristics and may affect individuals differently.

Symptoms

Common symptoms of Acrocephalosyndactyly include a high, prominent forehead; wide-set, bulging eyes; a beaked nose; and low-set, malformed ears. Individuals with this condition may also have fused fingers or toes, and in severe cases, intellectual disability.

Causes

Acrocephalosyndactyly is caused by mutations in specific genes. These mutations are usually sporadic, meaning they occur randomly and are not inherited from parents.

Treatment

Treatment for Acrocephalosyndactyly typically involves surgery to correct the shape of the skull and separate fused digits. Other treatments may include physical therapy, speech therapy, and special education services.

Related Terms

External links

Medical encyclopedia article on Acrocephalosyndactyly
Wikipedia's article - Acrocephalosyndactyly

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Acrocephalosyndactyly