Poland syndrome

Poland syndrome


Poland anomaly is the association of unilateral dysplasia involving the chest muscles, arm, hand, and fingers. There is hypoplasia or aplasia of the pectoralis minor muscle as well as absence of the sternal part of pectoralis major. The nipple and areola may be absent or hypoplastic and displaced. There may also be underlying rib defects. Poland anomaly may also be associated with Moebius syndrome (facial diplegia and ophthalmoplegia). The aetiology of the condition is unknown, and although most cases appear to be sporadic, some familial cases have been reported. The condition is three times commoner in males than females, and 75% of cases involve the right side.


The condition is diagnosed by the presence of unilateral pectoral anomalies and hypoplasia of the upper limb, with varying degrees of syndactyly, brachydactyly, oligodactyly and occasionally more severe limb reduction defect. Associated anomalies occurring with Poland anomaly include talipes (unilateral or bilateral), brachysyndactyly of the toes, cryptorchidism, plagiocephaly, spinal abnormalities such as hemivertebrae, spina bifida occulta and Sprengel anomaly, dextrocardia, renal anomalies, encephalocoele and hemiatrophy of the body. Of note is the greater than expected incidence of leukaemia in children with Poland anomaly.

Differential Diagnosis

CHILD syndrome has unilateral upper limb hypoplasia, but also has lower limb involvement as well as cardiac defects and generally intrauterine growth retardation. Holt-Oram syndrome may have asymmetric upper limb involvement mimicking Poland anomaly, but there is also a congenital cardiac defect.

Sonographic Features

Upper limb hypoplasia

Associated features:

– plagiocephaly

– hemivertebrae

– talipes

– encephalocoele

– dextrocardia

– agenesis or hypoplasia of ipsilateral kidney

Associated Syndromes


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Castilla EE, Paz JE, Oriioli IM Pectoralis major muscle defect and Poland complex Am J Med Genet 4:263

Ireland DCR, Takayama N, Flatt AE Polandís syndrome: a review of forty three cases J Bone Joint Surg 58-A:52

Mace JW, Kaplan JM, Schanberger JE, et al Polandís syndrome. Report of seven cases and review of the literature Clin Pediatr 11:98