Poland syndrome

Other Names: Poland anomaly; Poland syndactyly; Poland sequence; Unilateral defect of pectoralis muscle and syndactyly of the hand; Poland's syndrome

Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The extent and severity of the abnormalities vary among affected individuals.

Epidemiology

Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention.

Cause

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.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Most cases of Poland syndrome are sporadic, which means they are not inherited and occur in people with no history of the disorder in their families. Rarely, this condition is passed through generations in families. In these families the condition appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no associated genes have been found.

Signs and symptoms

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

• 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.

Poland syndrome has been associated with other syndromes, including Moebius syndrome (congenital bilateral facial paralysis with inability to abduct the eyes) and Klippel-Feil syndrome. Also, some blood malignancies, including leukemia and non-Hodgkin lymphoma, have been described in patients with Poland syndrome.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Absence of subcutaneous fat(Absent fat below the skin)
• Aplasia of the pectoralis major muscle
• Aplasia/Hypoplasia of the breasts(Absent/small breasts)
• Aplasia/Hypoplasia of the nipples(Absent/small nipples)
• Asymmetry of the thorax(Asymmetric chest)

30%-79% of people have these symptoms

• Finger symphalangism(Fused finger bones)
• Renal hypoplasia(Small kidneys)
• Small hand(Disproportionately small hands)
• Unilateral brachydactyly

5%-29% of people have these symptoms

• Abnormal dermatoglyphics(Abnormal fingerprints)
• Abnormality of the humerus
• Abnormality of the liver(Abnormal liver)
• Abnormality of the lower limb(Lower limb deformities)
• Abnormality of the outer ear(Abnormality of the external ear)
• Abnormality of the ulna
• Absent hand
• Acute leukemia
• Aplasia/Hypoplasia of the radius
• Aplasia/Hypoplasia of the sternum(Absent/small sternum)
• Aplasia/Hypoplasia of the thumb(Absent/small thumb)
• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Cone-shaped epiphysis(Cone-shaped end part of bone)
• Congenital diaphragmatic hernia
• Cryptorchidism(Undescended testes)
• Dextrocardia(Heart tip and four chambers point towards right side of body)
• Diabetes mellitus
• Duplicated collecting system
• Encephalocele
• Finger syndactyly
• Hand polydactyly(Extra finger)
• Hemivertebrae(Missing part of vertebrae)
• Hypospadias
• Kyphosis(Hunched back)
• Low posterior hairline(Low hairline at back of neck)
• Microcephaly(Abnormally small skull)
• Missing ribs(Absent ribs)
• Myopia(Close sighted)
• Neoplasm of the breast(Breast tumor)
• Pectus carinatum(Pigeon chest)
• Reduced bone mineral density(Low solidness and mass of the bones)
• Retinal hamartoma
• Scoliosis
• Short neck(Decreased length of neck)
• Short ribs
• Spina bifida occulta
• Split hand(Claw hand)
• Sprengel anomaly(High shoulder blade)
• Ureterocele
• Vesicoureteral reflux

Diagnosis

The severity of Poland syndrome differs from person to person. As a result, when it is mild, it may not be diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious. During the examination, the stage of breast development and of the latissimus dorsi muscle (one of the largest muscle of the back) should be noted. Other exams may be needed to rule out other problems such as Moebius syndrome.

Treatment

Management of Poland syndrome may include surgical correction of the chest wall deformities. Surgical options are available to improve appearance in both males and females. In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall. In males reconstruction of the chest may not be necessary if there is no underlying chest wall deformity. The optimal surgical approach will vary from patient to patient. Surgical options should be discussed with a surgeon familiar with reconstructive surgery in people with Poland syndrome.

NIH genetic and rare disease info

• NIH info on Poland syndrome

Poland syndrome is a rare disease.

Poland syndrome Resources
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