Details of Disease

General Information of Disease (ID: DIS18KX1)

Disease Name Feingold syndrome
Synonyms
digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum; microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome; FGLDS; microcephaly-intellectual disability-tracheoesophageal fistula syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; Brunner-Winter syndrome; digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum; oculo-digito-esophageal-duodenal syndrome; ODED syndrome; FS; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; microcephaly-digital anomalies-normal intelligence syndrome; MODED syndrome; MMT
Definition
Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS3HIWD: Autosomal dominant disease
DIS18KX1: Feingold syndrome
Disease Identifiers
MONDO ID
MONDO_0015267
MESH ID
C537734
UMLS CUI
C0796068
MedGen ID
163209
Orphanet ID
1305
SNOMED CT ID
702431004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYCN TT9JBY5 Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LRATD1 OT65IL83 Limited Genetic Variation [1]
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References

1 A de novo 4.4-Mb microdeletion in 2p24.3 ?p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.Eur J Med Genet. 2012 Nov;55(11):666-9. doi: 10.1016/j.ejmg.2012.07.003. Epub 2012 Jul 25.