Poland’s syndrome Disease

About Gene:

A rare congenital anomaly known as Poland syndrome is characterized by the absence of unilateral chest wall muscles and occasionally an ipsilateral symbrachydactyly (abnormally short and webbed fingers). The subclavian arteries' vascular disruption sequence is most likely the cause of the condition. Poland Syndrome typically manifests sporadically.

Number of Patients: 1

Disease Causing Genes:

Sign and Symptoms:

  1. Scoliosis
  2. Hypoplasia of hemithorax or ribs
  3. Soft tissue syndactyly
  4. Axillary webs & absence of axillary hair; minimal subcutaneous fat, if any
  5. Bony dysostoses affecting hand (brachymesophalagy with syndactyly, biphalangy, ectrodactyly), wrist, forearm, upper arm, scapula
  6. Hypoplasia or absence of nipple & breast
  7. Hypoplasia of latssimus dorsi, serratus anterior, external oblique & intercostal muscles, infra and supraspinatus, deltoid
  8. Absent pectoralis minor
  9. Absent sternocoostal head of pectoralis major

Diagnosis:

• Physical findings • Radiological evidence

Preventions:

Treatment: