Feingold Syndrome 1 (FGLDS1)

External Ids:

Disease Ontology 12 DOID:0060464 OMIM 56 164280 OMIM Phenotypic Series 56 PS164280 KEGG 36 H00510 MeSH 43 C537734 D004380 D004933 D008831 D017880 more ICD10 32 Q87.8

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0796068 Orphanet 58 ORPHA1305 ORPHA391641 MedGen 41 C0796068 C4551774 SNOMED-CT via HPO 68 103276001 10362008 122480009 15188001 15253005 205145001 228156007 237836003 246799009 246802000 247578003 249321001 253251006 253983005 26179002 263681008 271611007 27272007 276369006 302912005 32113001 32958008 343087000 40315008 415692008 43476002 51118003 60700002 66948001 702624008 707147002 708670007 83330001 86203003 91138005 93030006 95435007 95515009 95828007 more UMLS 71 C0796068

Genetics Home Reference : ²⁵ 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.

MalaCards based summary : Feingold Syndrome 1, also known as feingold syndrome, is related to heart septal defect and patent ductus arteriosus 1. An important gene associated with Feingold Syndrome 1 is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor), and among its related pathways/superpathways are DNA Damage Response and MicroRNAs in cancer. Affiliated tissues include heart, small intestine and kidney, and related phenotypes are microcephaly and brachydactyly

Disease Ontology : ¹² A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1305 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) (see these terms). 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. Visit the Orphanet disease page for more resources.

OMIM : ⁵⁶ Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). (164280)

KEGG : ³⁶ Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2).

UniProtKB/Swiss-Prot : ⁷³ Feingold syndrome 1: A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described.

Wikipedia : ⁷⁴ Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant... more...

GeneReviews: NBK7050

Clinical features from OMIM:

164280

Search NIH Clinical Center for Feingold Syndrome 1

Search GEO for disease gene expression data for Feingold Syndrome 1.