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Poland syndrome

ORPHA:2911· ICD-10 Q79.8

Definition

A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
Age of onset
Antenatal, Infancy, Neonatal