Feingold syndrome
Última actualización 8 Sept 2020
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Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.
Descripción
Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.
Individuals with Feingold syndrome type 1 or type 2 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.
Additional common features of both types 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 disabilities. Less often, affected individuals have hearing loss, short stature, or kidney or heart abnormalities.
People with Feingold syndrome type 1 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). Individuals with type 2 do not have gastrointestinal atresias.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Brunner-Winter syndrome
Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome
Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome
Oculo-digito-esophagoduodental (ODED) syndrome
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Lecturas adicionales y referencias
- Feingold syndrome; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1002/ajmg.a.20471.
- de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. Nat Genet. 2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915.
- Grote LE, Repnikova EA, Amudhavalli SM. Expanding the phenotype of feingold syndrome-2. Am J Med Genet A. 2015 Dec;167A(12):3219-25. doi: 10.1002/ajmg.a.37368. Epub 2015 Sep 11.
- 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.
- Marcelis CLM, de Brouwer APM. Feingold Syndrome 1. 2009 Jun 30 [updated 2019 Apr 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK7050/
- Teszas A, Meijer R, Scheffer H, Gyuris P, Kosztolanyi 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. doi: 10.1002/ajmg.a.31407. No abstract available.
- 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. doi: 10.1038/ng1546. Epub 2005 Apr 10.
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