Poland syndrome

Poland syndrome

Poland syndrome is an extremely rare congenital malformation. It manifests in one part of the body and has a specific aspect. The affected part is insufficiently developed, and the functioning of the hand in that area is limited. The treatment for this syndrome consists of reconstructive or reparative surgery. Children with Poland syndrome can have a normal physical appearance after rigorous operations. Intellectual capacity is not affected.

What is Poland syndrome and how often does it occur?

Poland syndrome is a serious condition that is part of the spectrum of rare congenital malformations. It is characterized by the absence or insufficient development of the chest wall of the child (the pectoral muscles) and / and the ribs in a certain part of the body. And the functionality of the hand corresponding to the affected area may be limited, because the symptoms of the syndrome may extend to it.

It seems that the condition appears on the right side of the body in most cases. The reasons underlying this fact are not known.

What are the causes of the syndrome?

The exact cause of Poland syndrome is unknown. It seems that the syndrome develops from the sixth week of fetal development.

It has not been proven, but doctors believe that diminished blood flow through the subclavian artery that supplies blood to the arm could be a cause of this malformation. The speculation was based on several theories, but none of them was conclusive for validating the information.

If we talk about risk factors that can lead to the birth defect, then sex is one of them. There seems to be a 3 times greater risk of it appearing in boys than in girls.

How does the syndrome manifest itself?
The disease has a number of extremely easy to see physical symptoms. Doctors rely heavily on the physical appearance of the child in diagnosing the condition. The clearest manifestations are:

  • absence or incomplete development of the pectoral muscle or the ribs (it can extend up to the child's underarm);
  • absence of the sternum (chest bone to which the pectoral muscle is attached);
  • absence or insufficient development of the nipple, areola and breast tissue (especially in girls);
  • short, joined fingers (cutaneous syndactyly) in the hand from the affected part of the body;
  • the functionality of the arm repeater is reduced;
  • absence of hair growth at the axilla of the affected part of the body.

What other complications or defects can arise from the syndrome?

The child diagnosed with this malformation is normal, except for the defects mentioned above.

The skin in the affected area may undergo changes. It can look very dry. Also, the absence of specific fat under the skin was noted.

In very rare cases the absence of the coasts in the area affected by the syndrome can be observed. There are also other areas of local muscle and bone that can be affected and that are manifested either by insufficient development or by their complete absence.

There may also be abnormalities associated with the syndrome in the kidney, spine, heart and digestive tract.

The child suffering from this anomaly does not manifest mental problems. Intelligence is not affected by anything.

How is the diagnosis made?

If there are obvious symptoms at birth, then the doctor may suspect its occurrence even in newborns. But sometimes the syndrome may manifest very late, even at puberty.
For diagnosing the anomaly, advanced tests are used as:

  • X rays;
  • computed tomography (CT);
  • magnetic resonance imaging (MRI).

How is Poland syndrome treated?

Much of the therapeutic approach to malformation is based on reparative (reconstructive) surgery. It uses the pectoral or other muscles of the body to create symmetry and aesthetic appearance between the affected and unaffected parts of the body.

If there is a lack of ribs or their incomplete development, the doctors will implant artificially created cartilage through bioengineering. It can restore a normal appearance to the chest.

In girls, surgery also involves the reconstruction and restoration of the symmetrical appearance of the breasts. But the operation of reconstruction of the affected breast is done only after the age at which the development and growth of the breasts is considered complete. The therapeutic tattoo is used to make areola and nipple in the repaired breast.

Tags Congenital malformations Birth disorders