Acropectoral syndrome

Acropectoral syndrome is a rare genetic disorder characterized by limb malformations and pectoral muscle defects.

Pronunciation

The term is pronounced as ak-roh-pek-tuh-ral sin-drohm.

Etymology

The term "Acropectoral syndrome" is derived from the Greek words "akron" meaning extremity, "pectoralis" referring to the chest, and "syndrome" meaning a group of symptoms.

Symptoms

The primary symptoms of Acropectoral syndrome include polydactyly (extra fingers or toes), syndactyly (fused fingers or toes), and ectrodactyly (absence of one or more central digits of the hand or foot). Additionally, the syndrome is associated with defects in the pectoral muscles, which are the muscles in the chest that control arm movement.

Causes

Acropectoral syndrome is a genetic disorder caused by mutations in the LMBR1 gene. This gene provides instructions for making a protein that is involved in the formation of the limbs and the pectoral muscles.

Diagnosis

Diagnosis of Acropectoral syndrome is based on a physical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Acropectoral syndrome is symptomatic and supportive. It may include surgery to correct limb and pectoral muscle abnormalities, physical therapy, and other interventions as needed.

Related Terms

• Genetic disorder
• Limb malformations
• Pectoral muscle
• Polydactyly
• Syndactyly
• Ectrodactyly
• LMBR1 gene

External links

• Medical encyclopedia article on Acropectoral syndrome
• Wikipedia's article - Acropectoral syndrome

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