ORPHA:1305
Feingold syndrome
Synonyms: Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum · FGLDS · FS · MMT · MODED syndrome · Microcephaly-digital anomalies-normal intelligence syndrome · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome · Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome · ODED syndrome · Oculo-digito-esophageal-duodenal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Feingold syndrome | Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum · FGLDS · FS · MMT · MODED syndrome · Microcephaly-digital anomalies-normal intelligence syndrome · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome · Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome · ODED syndrome · Oculo-digito-esophageal-duodenal syndrome |
| fr | Syndrome de Feingold | FGLDS · FS · MODED · Syndrome ODED · Syndrome d'anomalies digitales-fentes palpébrales courtes-atrésie oesophagienne ou duodénale · Syndrome de Brunner-Winter · Syndrome de microcéphalie-anomalies digitales-intelligence normale · Syndrome de microcéphalie-déficience intellectuelle-fistule trachéo-oesophagienne · Syndrome de microcéphalie-syndrome oculo-digito-oesophago-duodénal · Syndrome oculo-digito-oesophago-duodénal |
| de | Feingold-Syndrom | Brunner-Winter-Syndrom · FGLDS · FS · Fingeranomalien mit kurzen Lidspalten und Ösophagus- oder Duodenalatresie · MMT · MODED-Syndrom · ODED-Syndrom · Okulo-digito-ösophageales-duodenales Syndrom |
| es | Síndrome de Feingold | Anomalías digitales con fisuras palpebrales cortas y atresia esófagica o duodenal · Síndrome MODED · Síndrome ODED · Síndrome de Brunner-Winter · Síndrome de microcefalia-anomalías digitales-inteligencia normal · Síndrome de microcefalia-discapacidad intelectual-fístula traqueoesofágica · Síndrome de microcefalia-síndrome óculo-digito-esofágico-duodenal · Síndrome óculo-dígito-esofágico-duodenal |
| it | Sindrome di Feingold | Anomalie digitali con rime palpebrali corte e atresia dell'esofago o del duodeno · FGLDS · FS · MMT · Sindrome microcefalia-deficit cognitivo-fistola tracheo-esofagea · Sindrome MODED · Sindrome ODED · Sindrome di Brunner-Winter · Sindrome microcefalia-anomalie digitali-intelligenza normale · Sindrome oculo-digito-esofageo-duodenale · Sindrome microcefalia-malattia oculo-digito-esofageo-duodenale |
| nl | Syndroom van Feingold | Digitale anomalieën met korte palpebrale fissuren en atresie van oesofagus of duodenum · FGLDS · FS · MMT · MODED-syndroom · Microcefalie - digitale anomalieën - normale intelligentie-syndroom · Microcefalie - intellectuele achterstand - tracheo-oesofageale fistel-syndroom · Microcefalie - oculo-digito-oesofageaal-duodenaal syndroom-syndroom · ODED-syndroom · Oculo-digito-oesofageaal-duodenaal syndroom · Syndroom van Brunner-Winter |
| pt | Síndrome Feingold | Síndrome de microcefalia-anomalias digitais-inteligência normal · Síndrome de microcefalia-oculo-digito-esofago-duodenal · Síndrome de microcefalia-perturbação do desenvolvimento intelectual-fístula traqueo-esofágica · Síndrome óculo-digito-esofago-duodenal · Anomalias digitais-fissuras palpebrais pequenas-atresia do esófago ou duodeno · FGLDS · FS · MMT · Síndrome Brunner-Winter · Síndrome MODED · Síndrome ODED |
| pl | Zespół Feingolda | Anomalie palców ze skróceniem szpar powiekowych i atrezją przełyku lub dwunastnicy · FGLDS · FS · Małogłowie - niepełnosprawność intelektualna - szczelina tchawiczo-przełykowa · Małogłowie - zespół oczno-palcowo-przełykowo-dwunastniczy · MMT · Zespół Brunnera i Wintera · Zespół małogłowie-anomalie palców-normalna inteligencja · Zespół MODED · Zespół oczno-palcowo-przełykowo-dwunastniczy · Zespół ODED |
| cs | Feingoldův syndrom | FGLDS · FS · MMT · MODED syndrom · Syndrom zahrnující mikrocefalii a okulodigitoezofagoduodenální syndrom · ODED syndrom · Okulodigitoezofagoduodenální syndrom · Brunnerův-Winterův syndrom · Digitální anomálie s krátkými očními štěrbinami a atrézií jícnu nebo duodena · Syndrom zahrnující mikrocefalii, anomálie prstů a normální intelekt · Syndrom zahrnující mikrocefalii, mentální retardaci a tracheoezofageální píštěl · Brunner-Winterův syndrom |
| uk | Синдром Файнгольда | Синдром Бруннера-Вінтерна · Дигітальні аномалії з короткими пальцевими щілинами та атрезією стравоходу або дванадцятипалої кишки · FGLDS · FS · Cиндром мікроцефалії - аномалії пальців - нормального інтелекту · Мікроцефалія-інтелектуальна недостатність-трахеоезофагеальна нориця · Синдром мікроцефалії-окуло-дигіто-стравохідно-дуоденального синдрому · MMT · Синдром MODED · Око-дигіто-стравохідно-дуоденальний синдром · Синдром ODED |
| zh | Feingold综合征 | 指畸形伴短睑裂和食管或十二指肠闭锁 |
| tr | Feingold sendromu | FS · MMT · FGLDS · ODED sendromu · MODED sendromu · Brunner-Winter sendromu · Okülo-dijito-Özofageal-duodenal sendrom · Mikrosefali-dijital anomaliler-normal zeka sendromu · Mikrosefali-oculo-dijito-özofageal-duodenal sendrom sendromu · Mikrosefali-zihinsel yetersizlik-trakeoözofageal fistül sendromu · Kısa palpebral fissür ve özofagus veya duodenum atrezili dijital anomaliler |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164280 | BTNT | validated | |
| OMIM | 614326 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0015267 | E | validated | |
| MeSH | C537734 | E | validated | |
| UMLS | C0796068 | E | validated | |
| GARD | 8407 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:371445Genetic syndromic esophageal malformation
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108961Syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:108965Syndromic gastroduodenal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MIR17HG | ORPHA:391646Feingold syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23564 | ENSG00000215417 | 609415 | 13q31.3 | miR-17-92a-1 cluster host gene | 21892160[PMID] |
| MYCN | ORPHA:391641Feingold syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7559 | ENSG00000134323 | 164840 | 2p24.3 | MYCN proto-oncogene, bHLH transcription factor | 18470948[PMID]_15821734[PMID]_20301770[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 123 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0009468 | Deviation of the 2nd finger | |
| HP:0000252 | Microcephaly | |
| HP:0012745 | Short palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001822 | Hallux valgus | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0004322 | Short stature | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0001734 | Annular pancreas | |
| HP:0002247 | Duodenal atresia | |
| HP:0002032 | Esophageal atresia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1305
- This record as JSON: /data/d/1305.json