Poland syndrome

Overview

Poland syndrome is a rare congenital condition characterized by the underdevelopment or absence of the chest muscle on one side of the body and, in many cases, webbing of the fingers (syndactyly) on the same side. First described by British surgeon Sir Alfred Poland in the 19th century, the syndrome typically affects the right side of the body and is more common in males. The severity and combination of features can vary significantly between individuals, ranging from mild cosmetic differences to more noticeable functional impairments. Despite its physical manifestations, Poland syndrome does not usually affect life expectancy or cognitive development.

Causes

The exact cause of Poland syndrome remains unclear, but it is believed to result from a disruption of blood flow during embryonic development, specifically involving the subclavian artery or its branches. This vascular disruption likely occurs during the sixth week of gestation and affects the development of tissues supplied by the artery, including the chest wall and upper limb.

Poland syndrome is usually sporadic, meaning it occurs randomly with no clear genetic inheritance pattern. However, rare familial cases have been reported, suggesting a possible but unconfirmed genetic component.

Symptoms

The symptoms of Poland syndrome can vary in severity and presentation but commonly include:

• Chest wall anomalies: Absence or underdevelopment of the pectoralis major muscle on one side, leading to asymmetry of the chest.

• Upper limb abnormalities: Syndactyly (webbing) or shortened fingers (brachydactyly) on the affected side, often involving the middle fingers.

• Breast and nipple underdevelopment: In females, the breast and nipple on the affected side may be small or absent. In males, there may be visible flattening of the chest.

• Rib anomalies: In some cases, missing or underdeveloped upper ribs on the affected side.

• Axillary fold and hair: Absence of the underarm fold and hair growth on the affected side.

The syndrome typically affects the right side more often than the left and is usually unilateral (one-sided). In many individuals, symptoms are mild and primarily cosmetic.

Diagnosis

Poland syndrome is typically diagnosed based on clinical evaluation, particularly the visible physical features. Diagnostic steps may include:

• Physical examination: Identification of chest asymmetry, muscle absence, and hand anomalies.

• Imaging studies:

  • Chest X-rays: To assess rib or muscle absence.

  • MRI or CT scans: To visualize the extent of muscle underdevelopment and internal anomalies.

• Hand X-rays: To evaluate bone development and any digital abnormalities.

Poland syndrome is typically diagnosed at birth or during early childhood, although mild cases may go unnoticed until adolescence or adulthood when physical differences become more apparent.

Treatment

Treatment for Poland syndrome depends on the severity of symptoms and the individual’s functional and cosmetic concerns. Since the condition does not affect internal organs or intellectual development, treatment is usually elective and focused on reconstruction and improving quality of life. Options include:

• Physical and occupational therapy: To improve hand function and range of motion, especially in children with significant syndactyly or brachydactyly.

• Surgical interventions:

  • Chest reconstruction: Using implants or muscle flaps (e.g., latissimus dorsi) to recreate chest symmetry.

  • Breast reconstruction: In females with underdeveloped breasts on the affected side.

  • Hand surgery: Correction of syndactyly and improvement of hand function through reconstructive procedures.

• Psychological support: Counseling and support groups may benefit individuals coping with body image concerns or functional limitations.

In many cases, especially when the syndrome is mild, no treatment may be necessary beyond monitoring and reassurance.

Prognosis

The long-term outlook for individuals with Poland syndrome is generally excellent. Most people lead normal, healthy lives with no impact on life expectancy or intellectual ability. Functional limitations are usually mild, especially if the hand is minimally affected. Cosmetic and functional concerns can often be successfully addressed through reconstructive surgery and therapy.

With appropriate medical care and support, individuals with Poland syndrome can enjoy full participation in daily life, education, sports, and employment. Early diagnosis and a tailored treatment plan can further enhance quality of life and self-esteem.