What is Poland Syndrome?
Poland syndrome is a rare congenital condition characterized by a deformity in the chest wall. The deformity in the chest wall includes the following:
- Absent or hypoplasia of the breast and/or nipple
- Absent pectoralis minor muscle
- Absent costal cartilages
- Absent 2nd to 5th rib (on the side affected)
- Brachysyndactyly or short and fused fingers
Poland Syndrome Showing Hypoplasia of the RIght Breast and Absence of Pectoralis Muscle
Poland syndrome is first described in 1841 by Alfred Poland, who autopsied a convict named George Elt. A chest wall deformity and also an abnormality in the hand was noted from this individual. Alfred Poland took note of this and even preserved the examined hand at the Guy’s Hospital where he worked.
Prevalence of Poland Syndrome
This condition is said to affect males three times more than females. The side of the extremity affected in most of the cases is the right side, which occurs twice as often. The prevalence of this case is approximately at 7,000 for every 100,000 births.
Poland Syndrome Symptoms
The symptoms and clinical features of Poland syndrome can be categorized into three: common features, frequent features and occasional 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
- Absent or hypoplastic nipples
- Abnormalities in the scapula
- 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
Poland Syndrome Causes
The exact cause of Poland syndrome is not yet known. Several theories had been proposed to explain the cause of this condition, among them, the theory about vascular malformation in utero remains to be one supported by evidences.
- Sublcavian Artery Supply Disruption Sequence or SASDS
Most evidence points out to this cause of Poland syndrome. In SASDS, an interruption during the 6th week age of gestation happens and leads to malformations in the musculoskeletal system.
At some degree, genetic changes and mutations are also seen to cause Poland syndrome. Although the exact gene that causes this condition is not yet known, evidences indicate that genetics play a role in this disease. However, genetics still remains to be an issue since most of the cases are sporadic, or manifests even without familial history.
Poland Syndrome Associated Conditions
Other conditions that are associated with Poland syndrome include:
- Mobius syndrome- a congenital anomaly where there is bilateral paralysis of the face and inability to do eye ebduction
- Klippel-Feil Syndrome
- Malignancies in the Hematopoietic system
Poland Syndrome Diagnosis
Poland syndrome can be diagnosed through the following:
- Clinical Examination
The presence of physical manifestations upon clinical examination can be used to diagnose Poland syndrome.
- Imaging studies such as MRI and CT Scan
These are done to look for the presence of internal organ involvement seen in Poland’s syndrome. An MRI or CT scan can be utilized for the assessment of muscle deformities (such as the absence or hypoplasia of the pectoralis muscle) and also to assess for the presence of heart and kidney anomalies seen in this condition.
Poland Syndrome Treatment
The main stay treatment for Poland syndrome is reconstructive surgery. The goal of reconstructive surgery is to restore or improve the structure of the affected side. For males, reconstructive surgery can be done at 13 years of age, while for females surgery is done when the breast development is already complete. This is to ensure the reconstructed breasts are of symmetry.
Reconstructive surgery often involves autologous grafts or the placement of one’s chest to provide contour and improved its condition.
Chest Wall Repair
An immediate chest wall repair may be indicated especially if the defect is in the chest wall (the absence of the ribs) cause lung hernia. The hernia can be appreciated if the child cries or laughs. This herniation can lead to a flail chest, and this must be prevented by repairing the chest wall. A chest wall repair would stabilize the chest and prevent any herniation.
Chest wall repair usually involves the placement of autologous rib grafts as a replacement for the missing or short ribs.
Plastic Surgery for Syndactyly
Children with syndactyly can be treated with plastic surgery. Plastic surgery would repair or reconstruct the fused fingers and separate them properly to improve the child’s grip. This surgery must be done within the first year.
After the surgical intervention, physical therapy is then employed to further improve the child’s condition. Physical therapy would address the muscular weakness and disabilities in Poland syndrome.
Prognosis is good for children who undergo surgical reconstruction of the chest wall. Prognosis is also good if early and proper treatment is done.
Complications from this syndrome include:
- Respiratory Distress Syndrome and Respiratory Failure as a result of an untreated lung hernia
- Heart Complications from Dextrocardia
- Possible Kidney Problems from Kidney agenesis and ureteric abnormalies
- Development of lymphoma, leukemia and other associated hematopoietic malignancies also associated with the syndrome.
Poland Syndrome Pictures
Brachysyndactyly or short and fused fingers as seen in Poland Syndrome
Absent 2nd to 5th rib on the Right Side