Poland Syndrome


Fact: Poland syndrome has been estimated to occur in 1 in 20,000 newborns

What is Poland Syndrome?

Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.

People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.
Many people with Poland syndrome have hand abnormalities on the affected side, commonly including an underdeveloped hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together (syndactyly). This combination of hand abnormalities is called symbrachydactyly. Some affected individuals have only one or two of these features, or have a mild hand abnormality that is hardly noticeable; more severe abnormalities can cause problems with use of the hand. The bones of the forearm (radius and ulna) are shortened in some people with Poland syndrome, but this shortening may also be difficult to detect unless measured.

Genetics Home Reference

Are there associated conditions?

Poland sydrome may be associated with other conditions such as Moebius syndrome or Klippel-Feil syndrome. Researchers aren’t sure what causes Poland disease. The syndrome is not inherited and rarely runs in families. There may be a genetic component, but no affected genes have been found
Is there treatment for Poland Syndrome?
  • Reconstructive surgery
  • Plastic surgery for web fingers
  • Physical therapy
  • Chest wall repair
What causes Poland Syndrome?

The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on each side of the body. The arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand on their respective sides. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.
Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.
What Genes cause Poland Syndrome?

The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on each side of the body. The arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand on their respective sides. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.
Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.
Symptoms: 
The symptoms and clinical features of Poland syndrome can be categorized into three: common features, frequent features and occasional features.

Common Features
  • Shorter segments of the proximal limbs than the middle and distal parts or Rhizomelic micromelia
  • Presence of a simian crease on the affected part
  • Asymmetry of the upper limb
  • Presence of abnormality in the GI tract
  • Rib dumbness that is abnormal
  • Absence of pectoral muscles
  • Brachysyndactyly(short fused fingers( or brachydactyly (short fingers)
  • An absent or abnormal humerus
  • An absent or abnormal radius
  • An absent or abnormal ulna
  • Dextrocardia (malpositioned heart)
  • Anomalies in the liver and/or biliary tract
  • Syndactyly (fused or webbing of the fingers)
  • Oligodactyly (missing fingers)
  • Diaphragmatic hernia
  • Gestational Diabetes
Frequent Features
  • Absent or hypoplastic nipples
  • Abnormalities in the scapula
Occasional Features
  • Kidney hypoplasia or agenesis (underdeveloped or failure of the kidney to develop while in the womb)
  • Exencephaly or encephalocele (protrusion of the brain in a sac)
  • Abnormality in the structure and function of the hypothalamic-hypophyseal axis
  • Microcephaly (small skull or head)
  • Abnormalities in the segmentation of the vertebrae
  • Ureteric abnormalities
  • Preaxial polydactyly

​Information on this page taken from:
Genetics Home Reference
Rare Diseases
Syndromespedia
Want to learn more?

The following are organizations and/or websites dedicated to providing information and education surrounding Poland Syndrome. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.

Birth Defect Research for Children, Inc.Genetic and Rare Diseases Information Center
National Human Genome Research Institute
National Organization for Rare Diseases