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Fryns Syndrome
Thursday, 07 October 2004
Sunday, 28 November 2004

What

Fryns syndrome is a rare disorder in which infants are born with a variety of problems, particularly in breathing muscles, and in changes in the face. Fryns syndrome frequently causes a defect in the diaphragm muscle (which is important for breathing), lungs that are underdeveloped, characteristic facial features, changes in the fingers and toes, and problems with internal organs such as the heart.

Who

The exact incidence of Fryns syndrome is not known, but has been estimated to occur in about one in 12,000 live births. About 80 cases of Fryns syndrome have been reported in medical literature. Fryns syndrome occurs in males and females, and has no specific ethnic group association.

Signs and Symptoms

An infant born with Fryns syndrome may have few or many of the signs and symptoms listed below.

  • Congenital diaphragmatic hernia: the diaphragm is a muscle underneath the lungs that is important for normal breathing. In Fryns syndrome, there can be a defect in the diaphragm which causes the intestines and stomach to protrude out from the abdominal area into the chest where the lungs should be.
  • The abdominal organs in the chest cause the lungs to be underdeveloped (pulmonary hypoplasia). A diaphragmatic hernia along with underdeveloped lungs can cause severe breathing problems in the infant.
  • Face: Fryns syndrome can cause facial features such as small, wide-set eyes, increased facial hair growth, abnormal jaws, low-set ears, and a hole above the mouth area or in the lips (cleft palate or cleft lip). It can also cause other eye and vision problems, such as blurry vision (cloudy cornea).
  • Distal limb hypoplasia: this means that the fingers, toes, and nails are underdeveloped. They may be short and curved, or have other anomalies.
  • Fryns syndrome can cause anomalies in other areas of the body, including the heart, brain and spinal cord, gastrointestinal system (which includes the stomach and gut), bone system, and genitourinary tract (which includes the kidneys and reproductive organs).

Possible Causes

The cause of Fryns syndrome is not known yet. Some researchers think that Fryns syndrome is an autosomal recessive genetic disease. We have two copies of each gene, one inherited from each parent. For each of these genes, a person can either have two normal copies OR one normal copy and one changed copy OR two changed copies. An autosomal recessive genetic disease is caused by inheriting two changed copies of a certain gene. In this scenario, the parents would both have one normal copy of the gene in addition to one copy with a change in it, so they would not be affected. The changed copy from each parent was passed to the child though, so the child has no normal copy. Parents have no control over which copy passes to their children. Researchers are trying to find specific genes that might be involved in Fryns syndrome.

Diagnosis

Fryns syndrome is mainly diagnosed based on the clinical signs and symptoms it causes. Each feature by itself (like congenital diaphragmatic hernia) can have different causes, but if many of these signs and symptoms are present together, Fryns syndrome may be present.

Treatment

A cure for Fryns syndrome is not available. Fryns syndrome can cause severe breathing distress for the infant, through the diaphragmatic hernia and underdeveloped lungs. These children are severely ill, and often require machines to help support their breathing, and receive multiple medications intravenously. The doctors and parents may decide to do a surgical hernia repair, if it is possible. Depending on which signs and symptoms are present, other treatments may be necessary, such as reconstructive surgery for other changes in the face, heart or urinary system.

Prognosis

Unfortunately, many infants with Fryns syndrome are born stillborn or pass away during the neonatal period due to severe breathing problems and abnormalities in areas such as the brain and heart. Other infants may have less severe forms of this syndrome. Hopefully, future studies will help us understand the cause of Fryns syndrome and find improved treatments.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Yahoo Support Group
Parents can contact other families affected with Fryns syndrome through this website.

The Association of congenital Diaphragmatic Hernia (CDH) Research, Advocacy and Support
This site provides support and educational resources plus a lot of helpful links for families affected with CDH.

Google Search for Fryns Syndrome

References and Sources

Orpha Net (Rare diseases website) www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2059 Online Mendelian Inheritance in Man (OMIM) www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850 The Fetus Net www.thefetus.net/page.php?id=416 National Library of Medicine: Multiple Congenital Anomalies www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome304.html