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Fryns syndrome

Reviewed May 2010

What is Fryns syndrome?

Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.

Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary hypoplasia), which can cause life-threatening breathing difficulties in affected infants.

Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small chin (micrognathia). Many also have low-set and abnormally shaped ears.

Several additional features have been reported in people with Fryns syndrome. These include small eyes (microphthalmia), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia.

Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe developmental delay and intellectual disability.

How common is Fryns syndrome?

The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia.

What genes are related to Fryns syndrome?

The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder.

How do people inherit Fryns syndrome?

Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Fryns syndrome?

These resources address the diagnosis or management of Fryns syndrome and may include treatment providers.

  • Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia (http://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh)
  • Gene Review: Fryns Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1459)
  • Genetic Testing Registry: Fryns syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0220730)
  • Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia (http://www.seattlechildrens.org/medical-conditions/digestive-gastrointestinal-conditions/congenital-diaphragmatic-hernia-treatment/)

You might also find information on the diagnosis or management of Fryns syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/fryns-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/fryns-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Fryns syndrome?

You may find the following resources about Fryns syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Fryns syndrome?

  • diaphragmatic hernia, abnormal face, and distal limb anomalies

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Fryns syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Fryns syndrome?

autosomal ; autosomal recessive ; cardiovascular ; cell ; chromosome ; cleft palate ; congenital ; cornea ; developmental delay ; disability ; distal ; gastrointestinal ; gene ; genitalia ; hernia ; hypertelorism ; hypoplasia ; incidence ; inherited ; macrostomia ; micrognathia ; palate ; philtrum ; pulmonary ; recessive ; stomach ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cunniff C, Jones KL, Saal HM, Stern HJ. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 1990 Apr;85(4):499-504. (http://www.ncbi.nlm.nih.gov/pubmed/2314962?dopt=Abstract)
  • Gene Review: Fryns Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1459)
  • Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005 Dec 15;139(3):186-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16283673?dopt=Abstract)
  • Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988 Dec;31(4):805-14. (http://www.ncbi.nlm.nih.gov/pubmed/3239572?dopt=Abstract)
  • Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD Jr, Hirschl RB, Langham MR Jr, Lally KP; Congenital Diaphragmatic Hernia Study Group. Fryns syndrome in children with congenital diaphragmatic hernia. J Pediatr Surg. 2002 Dec;37(12):1685-7. (http://www.ncbi.nlm.nih.gov/pubmed/12483630?dopt=Abstract)
  • Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Variability in the phenotypic expression of fryns syndrome: A report of two sibships. Am J Med Genet. 2000 Dec 18;95(5):415-24. (http://www.ncbi.nlm.nih.gov/pubmed/11146459?dopt=Abstract)
  • Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005 Sep;42(9):730-6. (http://www.ncbi.nlm.nih.gov/pubmed/16141010?dopt=Abstract)
  • Slavotinek AM, Schauer G, Machin G, Dasouki M, Rueda-Pedraza ME, Chiricosta F, Keller R. Fryns syndrome: report of eight new cases. Genet Med. 2005 Jan;7(1):74-6. (http://www.ncbi.nlm.nih.gov/pubmed/15654233?dopt=Abstract)
  • Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 2004 Feb 1;124A(4):427-33. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14735597?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2010
Published: December 16, 2014