What is Fryns Syndrome & How is it Treated?

What is Fryns Syndrome?

Fryns Syndrome is an extremely rare genetic pathological condition characterized by multiple abnormalities affecting the various organs of the body. These abnormalities are present since the birth of the child. The primary presenting features of Fryns Syndrome are abnormalities in the diaphragm, underdeveloped lungs making breathing difficult.
Children with Fryns Syndrome also have distinct facial features and tend to have underdeveloped fingers of the hands and underdeveloped toes. Affected children also tend to have abnormalities of the brain, eyes, heart, the digestive and the urinary system as a result of Fryns Syndrome.

The exact cause of this condition is not known but it is believed to be inherited as an autosomal recessive condition meaning that two copies of the defective gene one from each parent is required for the development of Fryns Syndrome.

What is Fryns Syndrome?

What are the Causes of Fryns Syndrome?

The exact gene that causes Fryns Syndrome is not yet known but based on the studies conducted showing the condition running in families studies believe that it inherited as an autosomal recessive trait which means that two copies of the defective gene one from each parent is required for development of Fryns Syndrome.

What are the Symptoms of Fryns Syndrome?

The symptoms caused by Fryns Syndrome are significantly variable in their severity and while some children may be severely affected others may not show much of symptoms. The primary symptoms of Fryns Syndrome include:

  • Underdeveloped diaphragm
  • Underdeveloped lungs causing difficulty breathing
  • Distinct facial features
  • Underdeveloped fingers of the hands
  • Underdeveloped toes
  • Abnormally small eyes
  • Excessive amniotic fluid
  • Brain abnormalities
  • Cardiac abnormalities
  • Genital abnormalities.

How is Fryns Syndrome Diagnosed?

There are six distinct features that a child must have in order to confirm a diagnosis of Fryns Syndrome. These features are:

  • Diaphragmatic abnormality which can be seen clearly on imaging studies
  • Distinct facial features
  • Abnormal or underdeveloped fingers of the hands
  • Underdeveloped lungs which will tend to cause difficulty breathing and imaging studies will clearly show the abnormality
  • Malformation of either the digestive system or the urinary system.
  • Once all these abnormalities are confirmed through imaging studies the diagnosis is confirmed of Fryns Syndrome.

How is Fryns Syndrome Treated?

As of now, there is no cure for Fryns Syndrome and treatment is basically symptomatic. The diaphragm and lungs which are underdeveloped may need to be treated surgically.

As some of the abnormalities caused by this condition are potentially life threatening like abnormalities of the heart, lungs, and the diaphragm the surgery to correct these may need to be performed soon after the birth of the child as soon as the condition is diagnosed.

The treatment of a child with Fryns Syndrome will require coordinated effort from physicians of various specialties who can formulate a treatment plan best suited for a child with Fryns Syndrome.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:March 21, 2018

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