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Feingold syndrome(MODED; ODED)

MedGen UID:
163209
Concept ID:
C0796068
Disease or Syndrome
Synonym: Brunner Winter syndrome
SNOMED CT: Feingold syndrome (702431004); Microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome (702431004); Microcephaly-oculo-digito-esophageal-duodenal syndrome (702431004); Microcephaly-oculo-digito-oesophageal-duodenal syndrome (702431004); Oculo-digito-oesophagoduodenal syndrome (702431004); Oculo-digito-esophagoduodenal syndrome (702431004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0015267
OMIM®: 164280; 164840
OMIM® Phenotypic series: PS164280
Orphanet: ORPHA1305

Definition

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.

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.

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. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFeingold syndrome
Follow this link to review classifications for Feingold syndrome in Orphanet.

Recent clinical studies

Etiology

Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, Pingault V, Rousseau V, Amiel J
Am J Med Genet A 2023 Jan;191(1):77-83. Epub 2022 Oct 21 doi: 10.1002/ajmg.a.62989. PMID: 36271508
Lawlor C, Smithers CJ, Hamilton T, Baird C, Rahbar R, Choi S, Jennings R
Laryngoscope 2020 Feb;130(2):E65-E74. Epub 2019 Mar 25 doi: 10.1002/lary.27938. PMID: 30908672
Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article

Diagnosis

Gouveia I, Geraldo AF, Godinho C, Castedo S
BMJ Case Rep 2023 Mar 8;16(3) doi: 10.1136/bcr-2022-254366. PMID: 36889805Free PMC Article
Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, Pingault V, Rousseau V, Amiel J
Am J Med Genet A 2023 Jan;191(1):77-83. Epub 2022 Oct 21 doi: 10.1002/ajmg.a.62989. PMID: 36271508
Lei J, Han L, Huang Y, Long M, Zhao G, Yan S, Zhang J
Am J Med Genet A 2021 Jul;185(7):2262-2266. Epub 2021 Apr 5 doi: 10.1002/ajmg.a.62190. PMID: 33818875
Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Lawlor C, Smithers CJ, Hamilton T, Baird C, Rahbar R, Choi S, Jennings R
Laryngoscope 2020 Feb;130(2):E65-E74. Epub 2019 Mar 25 doi: 10.1002/lary.27938. PMID: 30908672
Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article

Prognosis

Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, Pingault V, Rousseau V, Amiel J
Am J Med Genet A 2023 Jan;191(1):77-83. Epub 2022 Oct 21 doi: 10.1002/ajmg.a.62989. PMID: 36271508
Grote LE, Repnikova EA, Amudhavalli SM
Am J Med Genet A 2015 Dec;167A(12):3219-25. Epub 2015 Sep 11 doi: 10.1002/ajmg.a.37368. PMID: 26360630
Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG
Nat Genet 2005 May;37(5):465-7. Epub 2005 Apr 10 doi: 10.1038/ng1546. PMID: 15821734

Clinical prediction guides

Burnside RD, Molinari S, Botti C, Brooks SS, Chung WK, Mehta L, Schwartz S, Papenhausen P
Am J Med Genet A 2018 Sep;176(9):1956-1963. Epub 2018 Aug 8 doi: 10.1002/ajmg.a.40355. PMID: 30088856
Lehman VT, Patterson MC, Babovic-Vuksanovic D, Rydberg C
Am J Med Genet A 2009 Dec;149A(12):2824-7. doi: 10.1002/ajmg.a.33108. PMID: 19921653
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG
Nat Genet 2005 May;37(5):465-7. Epub 2005 Apr 10 doi: 10.1038/ng1546. PMID: 15821734
Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG
Am J Hum Genet 2000 Feb;66(2):436-44. doi: 10.1086/302779. PMID: 10677303Free PMC Article

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