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Genetic and Rare Diseases Information Center (GARD)

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Poland syndrome


Other Names for this Disease

  • Poland anomaly
  • Poland sequence
  • Poland syndactyly
  • Poland's syndrome
  • Unilateral defect of pectoralis muscle and syndactyly of the hand
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Symptoms

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What are the signs and symptoms of Poland syndrome?

Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of breast tissue, while others may be missing all or part of the chest muscle and underlying ribs.[1] Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition:[2]

  • Absence of some of the chest muscles.
  • The end of the main chest muscle, where it attaches to the breastbone, is usually missing.
  • The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues.
  • Abnormally short and slightly webbed fingers.
  • Often, the armpit (axillary) hair is missing.
  • The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer.
  • The upper rib cage can be underdeveloped or missing. Sometimes the shoulder blade or bones of the arm are also involved.
  • Rarely, spine or kidney problems are present.
Last updated: 6/25/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Poland syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aplasia of the pectoralis major muscle 90%
Aplasia/Hypoplasia of the nipples 90%
Asymmetry of the thorax 90%
Breast aplasia 90%
Brachydactyly syndrome 50%
Finger syndactyly 50%
Split hand 50%
Abnormal dermatoglyphics 7.5%
Abnormality of the humerus 7.5%
Abnormality of the liver 7.5%
Abnormality of the lower limb 7.5%
Abnormality of the ribs 7.5%
Abnormality of the sternum 7.5%
Abnormality of the ulna 7.5%
Absent hand 7.5%
Acute leukemia 7.5%
Aplasia/Hypoplasia of the radius 7.5%
Aplasia/Hypoplasia of the thumb 7.5%
Cone-shaped epiphysis 7.5%
Congenital diaphragmatic hernia 7.5%
Low posterior hairline 7.5%
Neoplasm of the breast 7.5%
Reduced bone mineral density 7.5%
Renal hypoplasia/aplasia 7.5%
Retinal hamartoma 7.5%
Scoliosis 7.5%
Short neck 7.5%
Situs inversus totalis 7.5%
Abnormality of the breast -
Absence of pectoralis minor muscle -
Autosomal dominant inheritance -
Dextrocardia -
Hemivertebrae -
Hypoplasia of deltoid muscle -
Hypoplasia of latissimus dorsi muscle -
Hypoplasia of serratus anterior muscle -
Rib fusion -
Short ribs -
Sprengel anomaly -
Syndactyly -
Unilateral absence of pectoralis major muscle -
Unilateral brachydactyly -
Unilateral hypoplasia of pectoralis major muscle -
Unilateral oligodactyly -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Breast Problems. The American Pediatric Surgical Association. http://tinyurl.com/y8lhy4o. Accessed 9/30/2010.
  2. Learning About Poland Anomaly. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/14514230. Accessed 9/30/2010.


Other Names for this Disease
  • Poland anomaly
  • Poland sequence
  • Poland syndactyly
  • Poland's syndrome
  • Unilateral defect of pectoralis muscle and syndactyly of the hand
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.