Poland syndrome

Poland syndrome is a rare developmental disorder (1 in 20,000 live births) which is present at birth (congenital). It consists of underdevelopment of some or all of the chest, shoulder and upper limb on one side of the body. It affects males more frequently than females.

In this article

What are the symptoms of Poland syndrome?

The severity and extent of abnormalities varies between individuals, and it is rare to have all the features of Poland syndrome. There is hypoplasia (underdevelopment) of the ribs and chest wall. The most common abnormality of the shoulder girdle and chest wall is absence of part of the chest muscle (known as the pectoralis major) which makes the anterior (front) fold of the armpit. In girls, this may be associated with undergrowth or complete absence of a breast, and a small or absent nipple and areola (pink or brown circle around the nipple). There may also be absence (agenesis) or hypoplasia of other chest muscles (including the pectoralis minor).

The affected arm may be underdeveloped. Abnormalities of the hand vary from a mild change in skin crease patterns to complete absence of some fingers, and the hand is often small. In some cases, the skin and sometimes the bone has not separated during development and is still joined together (this is known as syndactyly). Brachydactyly (short fingers) can also occur.

What are the causes of Poland syndrome?

The cause of Poland syndrome is thought to be due to a temporary alteration in blood flow in the developing shoulder girdle and upper limb during pregnancy at approximately seven weeks. Individuals affected by Poland syndrome have a normal life expectancy and intelligence is within the normal range.

How is Poland syndrome diagnosed?

It is diagnosed clinically by recognising the characteristic features, usually by specialists who have experience of the condition.

How is Poland syndrome treated?

Each case is assessed individually. Hand problems, as well as underdevelopment of the chest and breast can be reconstructed, usually by plastic surgeons.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
In most individuals, Poland syndrome occurs sporadically as a result of an error in development in the womb. There is no increased risk of recurrence for the affected family when neither parent has Poland syndrome. There may be a genetic component in a minority of families, and genetic counselling is suggested in such cases. Poland syndrome may occur as part of Möbius syndrome (see entry Moebius syndrome).

Prenatal diagnosis
When the limb and chest abnormalities are severe, ultrasound scanning may identify the condition before birth.

Is there support for people diagnosed with Poland syndrome and their families?

If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

We’ve listed some support groups below and you can also meet other parents online in our closed Facebook group.


Tel: 07877 644170
Email: via website
Website: pip-uk.org

PIP-UK offers support to individuals and families affected by Poland syndrome. They aim to raise awareness of the condition, provide a support network and put families in touch with relevant medical professionals.

Group details added November 2019.


Last reviewed December 2013 by Mr R Dunn, Consultant Plastic, Reconstructive and Hand Surgeon, Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK.

Back to A-Z Conditions