Definition

What is Fryns syndrome?

Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many individuals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs).

How common is Fryns syndrome?

Fryns syndrome is a rare disease that affects both males and females equally. A 1989 French study reported 7 cases per 100,000 live births, but no other recent estimates of prevalence have been published. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Fryns syndrome?

The common symptoms of Fryns syndrome are:

  • 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.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes 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.

Risk factors

What increases my risk for Fryns syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Fryns syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 11, 2018 | Last Modified: February 11, 2018

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