ORPHA:391641
Feingold syndrome type 1
Synonyms: Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 · FGLDS1 · FS1 · MMT type 1 · MODED syndrome type 1 · Microcephaly-digital anomalies-normal intelligence syndrome type 1 · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 · Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 · ODED syndrome type 1 · Oculo-digito-esophageal-duodenal syndrome type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Feingold syndrome type 1 | Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 · FGLDS1 · FS1 · MMT type 1 · MODED syndrome type 1 · Microcephaly-digital anomalies-normal intelligence syndrome type 1 · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 · Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 · ODED syndrome type 1 · Oculo-digito-esophageal-duodenal syndrome type 1 |
| fr | Syndrome de Feingold type 1 | FGLDS1 · FS1 · MODED type 1 · Syndrome ODED type 1 · Syndrome d'anomalies digitales-fentes palpébrales courtes-atrésie oesophagienne ou duodénale type 1 · Syndrome de Brunner-Winter type 1 · Syndrome de microcéphalie-anomalies digitales-intelligence normale type 1 · Syndrome de microcéphalie-déficience intellectuelle-fistule trachéo-oesophagienne type 1 · Syndrome de microcéphalie-syndrome oculo-digito-oesophago-duodénal type 1 · Syndrome oculo-digito-oesophago-duodénal type 1 |
| de | Feingold-Syndrom Typ 1 | Brunner-Winter-Syndrom Typ 1 · FGLDS1 · FS1 · Fingeranomalien mit kurzen Lidspalten und Ösophagus- oder Duodenalatresie Typ 1 · MMT Typ 1 · MODED-Syndrom Typ 1 · Mikrozephalie mit Fingeranomalien und normaler Intelligenz Typ 1 · Mikrozephalie-Intelligenzminderung-Tracheo-Ösophageale Fistel-Syndrom Typ 1 · Mikrozephalie-okulo-digito-oesophago-duodenal-Syndrom Typ 1 · ODED-Syndrom Typ 1 · Okulo-Digito-Oesophago-Duodenal-Syndrom Typ 1 |
| es | Síndrome de Feingold tipo 1 | Anomalías digitales con fisuras palpebrales cortas y atresia esófagica o duodenal tipo 1 · FGLDS1 · FS1 · MMT tipo 1 · Síndrome MODED tipo 1 · Síndrome ODED tipo 1 · Síndrome de Brunner-Winter tipo 1 · Síndrome de microcefalia-anomalías digitales-inteligencia normal tipo 1 · Síndrome de microcefalia-discapacidad intelectual-fístula traqueoesofágica tipo 1 · Síndrome de microcefalia-síndrome óculo-dígito-esofágico-duodenal tipo 1 · Síndrome óculo-dígito-esofágico-duodenal tipo 1 |
| it | Sindrome di Feingold tipo 1 | Anomalie digitali con rime palpebrali corte e atresia dell'esofago o del duodeno, tipo 1 · FGLDS1 · FS1 · MMT, tipo 1 · Sindrome MODED, tipo 1 · Sindrome ODED, tipo 1 · Sindrome di Brunner-Winter, tipo 1 · Sindrome microcefalia-anomalie digitali-intelligenza normale, tipo 1 · Sindrome microcefalia-disabilità cognitiva-fistola tracheoesofagea, tipo 1 · Sindrome microcefalia-oculo-digito-esofageo-duodenale, tipo 1 · Sindrome oculo-digito-esofageo-duodenale, tipo 1 |
| nl | Syndroom van Feingold type 1 | Digitale anomalieën met korte ooglidspleten en atresie van slokdarm of duodenum type 1 · FGLDS1 · FS1 · MMT type 1 · MODED-syndroom type 1 · Microcefalie - digitale anomalieën - normale intelligentie-syndroom type 1 · Microcefalie - intellectuele achterstand - tracheo-oesofageale fistel-syndroom type 1 · Microcefalie - oculo-digito-oesofageaal-duodenaal syndroom type 1 · ODED-syndroom type 1 · Oculo-digito-oesofageaal-duodenaal syndroom type 1 · Syndroom van Brunner-Winter type 1 |
| pt | Síndrome de Feingold, tipo 1 | |
| pl | Zespół Feingolda typu 1 | Anomalie palców z krótkimi szparami powiekowymi i atrezją przełyku lub dwunastnicy typu 1 · FGLDS1 · FS1 · Małogłowie - niepełnosprawność intelektualna - szczelina tchawiczo-przełykowa typu 1 · Małogłowie - zespół oczno-palcowo-przełykowo-dwunastniczy typu 1 · Małogłowie-anomalie palców-normalna inteligencja typu 1 · MMT typu 1 · Zespół Brunnera i Wintera typu 1 · Zespół MODED typu 1 · Zespół oczno-palcowo-przełykowo-dwunastniczy typu 1 · Zespół ODED typu 1 |
| cs | Feingoldův syndrom, typ 1 | FGLDS1 · FS1 · MMT typ 1 · MODED syndrom, typ 1 · Mikrocefalie a okulo-digito-esofago-duodenální syndrom, typ 1 · ODED syndrom, typ 1 · Okulo-digito-esofago-duodenální syndrom, typ 1 · Brunnerův-Winterův syndrom, typ 1 · Anomálie prstů s krátkými očními štěrbinami a atrézií jícnu nebo duodena, typ 1 · Syndrom zahrnující mikrocefalii, anomálie prstů a normální inteligenci, typ 1 · Syndrom zahrnující mikrocefalii, mentální retardaci a tracheoesofageální píštěl, typ 1 · Brunner-Winterův syndrom, typ 1 |
| uk | Синдром Файнгольда, тип 1 | Синдром Бруннера-Вінтерна, тип 1 · Дигітальні аномалії з короткими пальцевими щілинами та атрезією стравоходу або дванадцятипалої кишки типу 1 · FGLDS1 · FS1 · Синдром мікроцефалії-пальцевих аномалій- нормального інтелекту, тип 1 · Мікроцефалія-інтелектуальна недостатність-трахеоезофагеальна нориця, тип 1 · Синдром мікроцефалії-окуло-дигіто-стравохідно-дуоденальний синдром, тип 1 · MMT тип 1 · Синдром MODED, тип 1 · Окуло-дигіто-стравохідно-дуоденальний синдром, тип 1 · Синдром ODED тип 1 |
| zh | Feingold综合征1型 | 手指畸形伴睑裂短和食管或十二指肠闭锁1型 |
| tr | Feingold sendromu tip 1 | FS1 · FGLDS1 · MMT tip 1 · ODED sendromu tip 1 · MODED sendromu tip 1 · Brunner-Winter sendromu tip 1 · Okülo-dijito-özofageal-duodenal sendrom tip 1 · Mikrosefali-dijital anomaliler-normal zeka sendromu tip 1 · Mikrosefali-okülo-dijito-özofageal-duodenal sendrom sendromu tip 1 · Mikrosefali-zihinsel yetersizlik-trakeözofageal fistül sendromu tip 1 · Özofagus ve duodenum tip 1 atrezisi ve kısa palpebral fissürler ile seyreden dijital anomaliler |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164280 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0008115 | E | validated | |
| UMLS | C4551774 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1305Feingold syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare bone diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYCN | 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] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 120 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
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HPO phenotypes
35 annotations · validated 2020-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002589 | Gastrointestinal atresia | |
| HP:0000252 | Microcephaly | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0004692 | 4-5 toe syndactyly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002032 | Esophageal atresia | |
| HP:0000347 | Micrognathia | |
| HP:0009577 | Short middle phalanx of the 2nd finger | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| HP:0012745 | Short palpebral fissure | |
| HP:0009778 | Short thumb | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002247 | Duodenal atresia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000126 | Hydronephrosis | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0011625 | Multiple muscular ventricular septal defects | |
| HP:0000123 | Nephritis | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000110 | Renal dysplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0011662 | Tricuspid atresia | |
| HP:0010446 | Tricuspid stenosis | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0002023 | Anal atresia | |
| HP:0001249 | Intellectual disability | |
| HP:0005235 | Jejunal atresia | |
| HP:0004322 | Short stature | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301770[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391641
- This record as JSON: /data/d/391641.json