Feingold syndrome

Reviewed September 2009

What is Feingold syndrome?

Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes.

People with Feingold syndrome are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Additional common features of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities.

How common is Feingold syndrome?

Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.

What genes are related to Feingold syndrome?

Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.

Mutations in the MYCN gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the specific features of Feingold syndrome.

Related Gene(s)

Changes in this gene are associated with Feingold syndrome.

MYCN

How do people inherit Feingold syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

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

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

Gene Review: Feingold Syndrome 1 (http://www.ncbi.nlm.nih.gov/books/NBK7050/)
Genetic Testing Registry: Feingold syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0796068)
Genetic Testing Registry: Feingold syndrome 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3280489)
MedlinePlus Encyclopedia: Duodenal Atresia (http://www.nlm.nih.gov/medlineplus/ency/article/001131.htm)
MedlinePlus Encyclopedia: Esophageal Atresia (http://www.nlm.nih.gov/medlineplus/ency/article/000961.htm)
MedlinePlus Encyclopedia: Microcephaly (http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm)
MedlinePlus Encyclopedia: Webbing of the Fingers or Toes (http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm)

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

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

MedlinePlus - Health information
- Encyclopedia: Duodenal Atresia (http://www.nlm.nih.gov/medlineplus/ency/article/001131.htm)
- Encyclopedia: Esophageal Atresia (http://www.nlm.nih.gov/medlineplus/ency/article/000961.htm)
- Encyclopedia: Microcephaly (http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm)
- Encyclopedia: Webbing of the Fingers or Toes (http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm)
- Health Topic: Foot Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/footinjuriesanddisorders.html)
- Health Topic: Hand Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/handinjuriesanddisorders.html)
- Health Topic: Intestinal Obstruction (http://www.nlm.nih.gov/medlineplus/intestinalobstruction.html)
Educational resources - Information pages
- Children's Hospital Boston: Thumb Hypoplasia/ Aplasia (http://www.childrenshospital.org/az/Site2011/mainpageS2011P0.html)
- New York-Presbyterian Hospital: Congenital Hand Deformities (http://nyp.org/health/plassurg-handdef.html)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1305)
Patient support - For patients and families
- Family Village: Learning Disabilities (http://www.familyvillage.wisc.edu/lib_ld.htm)
- Family Village: Limb Differences (http://www.familyvillage.wisc.edu/lib_ampu.htm)
- Resource List from the University of Kansas: Limb Anomalies (http://www.kumc.edu/gec/support/limb.html)

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

Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK7050/)
Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Feingold syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0796068)
- Genetic Testing Registry: Feingold syndrome 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3280489)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((feingold%20syndrome%5BTIAB%5D)%20OR%20(microcephaly-oculo-digito-esophageal-duodenal%20syndrome%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/164280)

What other names do people use for Feingold syndrome?

microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome
microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome
oculo-digito-esophagoduodental (ODED) syndrome

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 Feingold syndrome?

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

What glossary definitions help with understanding Feingold syndrome?

atresia ; autosomal ; autosomal dominant ; cell ; clinodactyly ; digestive ; digestive system ; DNA ; embryonic ; esophagus ; fistula ; gastrointestinal ; gene ; hypoplasia ; intestine ; kidney ; learning disability ; microcephaly ; micrognathia ; mutation ; nervous system ; prevalence ; protein ; syndactyly ; syndrome ; transcription ; transcription factor

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

References

Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1;122A(4):294-300. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14518066?dopt=Abstract)
Gene Review: Feingold Syndrome 1 (http://www.ncbi.nlm.nih.gov/books/NBK7050/)
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750. (http://www.ncbi.nlm.nih.gov/pubmed/18470948?dopt=Abstract)
Tészás A, Meijer R, Scheffer H, Gyuris P, Kosztolányi G, van Bokhoven H, Kellermayer R. Expanding the clinical spectrum of MYCN-related Feingold syndrome. Am J Med Genet A. 2006 Oct 15;140(20):2254-6. (http://www.ncbi.nlm.nih.gov/pubmed/16906565?dopt=Abstract)
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. Epub 2005 Apr 10. (http://www.ncbi.nlm.nih.gov/pubmed/15821734?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.



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