ORPHA:391646

Feingold syndrome type 2

Synonyms: Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2 · FGLDS2 · FS2 · MMT type 2 · Microcephaly-digital anomalies-normal intelligence syndrome type 2 · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2

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 microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Feingold syndrome type 2	Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2 · FGLDS2 · FS2 · MMT type 2 · Microcephaly-digital anomalies-normal intelligence syndrome type 2 · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
fr	Syndrome de Feingold type 2	FGLDS2 · FS2 · MMT type 2 · Syndrome de Brunner-Winter type 2 · Syndrome de brachydactylie-petite taille-microcéphalie · Syndrome de microcéphalie-anomalies digitales-intelligence normale type 2 · Syndrome de microcéphalie-déficience intellectuelle-fistule trachéo-oesophagienne type 2
de	Feingold-Syndrom Typ 2	Brachydaktylie-Kleinwuchs-Mikrozephalie-Syndrom · Brunner-Winter-Syndrom Typ 2 · FGLDS2 · FS2 · MMT Typ 2 · Mikrozephalie mit Fingeranomalien und normaler Intelligenz Typ 2 · Mikrozephalie-Intelligenzminderung-Tracheo-Ösophageale Fistel-Syndrom Typ 2
es	Síndrome de Feingold tipo 2	FGLDS2 · FS2 · MMT tipo 2 · Síndrome de Brunner-Winter tipo 2 · Síndrome de braquidactilia-talla baja-microcefalia · Síndrome de microcefalia-anomalías digitales-inteligencia normal tipo 2 · Síndrome de microcefalia-discapacidad intelectual-fístula traqueoesofágica tipo 2
it	Sindrome di Feingold tipo 2	FGLDS2 · FS2 · MMT, tipo 2 · Sindrome brachidattilia-bassa statura-microcefalia · Sindrome di Brunner-Winter, tipo 2 · Sindrome microcefalia-anomalie digitali-intelligenza normale, tipo 2 · Sindrome microcefalia-deficit cognitivo-fistola tracheoesofagea, tipo 2
nl	Syndroom van Feingold type 2	Brachydactylie - kleine gestalte - microcefalie-syndroom · FGLDS2 · FS2 · MMT type 2 · Microcefalie - digitale anomalieën - normale intelligentie-syndroom type 2 · Microcefalie - intellectuele achterstand - tracheo-oesofageale fistel-syndroom type 2 · Syndroom van Brunner-Winter type 2
pt	Síndrome de Feingold, tipo 2
pl	Zespół Feingolda typu 2	FGLDS2 · FS2 · MMT typu 2 · Zespół brachydaktylia-niski wzrost-małogłowie · Zespół Brunnera i Wintera typu 2 · Zespół małogłowie - niepełnosprawność intelektualna - szczelina tchawiczo-przełykowa typu 2 · Zespół małogłowie-anomalie palców-prawidłowy rozwój intelektualny typu 2
cs	Feingoldův syndrom, typ 2	FGLDS2 · FS2 · MMT typ 2 · Syndrom zahrnující brachydaktylii, malý vzrůst a mikrocefalii · Brunnerův-Winterův syndrom, typ 2 · Syndrom zahrnující mikrocefalii, anomálie prstů a normální inteligenci, typ 2 · Syndrom zahrnující mikrocefalii, mentální retardaci a tracheoesofageální píštěl, typ 2 · Brunner-Winterův syndrom, typ 2
uk	Синдром Файнгольда, тип 2	Синдром брахідактилії - низького зросту-мікроцефалії · Синдром Бруннера-Вінтерна, тип 2 · FGLDS2 · FS2 · Синдром мікроцефалії-пальцевих аномалій- нормального інтелекту, тип 2 · Мікроцефалія-інтелектуальна недостатність-трахеоезофагеальна нориця, тип 2 · ММТ, тип 2
zh	Feingold综合征2型	小头畸形-智力障碍-气管食管瘘2型
tr	Feingold sendromu tip 2	FS2 · FGLDS2 · MMT tip 2 · Brunner-Winter sendromu tip 2 · Brakidaktili-kısa boy-mikrosefali sendromu · Mikrosefali-dijital anomaliler-normal zeka sendromu tip 2 · Mikrosefali-zihinsel yetersizlik-trakeoözofajeal fistül sendromu tip 2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614326	E		validated
ICD-10	Q87.8	NTBT	attributed	validated
ICD-11	LD2F.1Y	NTBT	attributed	validated
MONDO	0013691	E		validated
UMLS	C3280489	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

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.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MIR17HG	Disease-causing germline mutation(s) in	Assessed	HGNC:23564	ENSG00000215417	609415	13q31.3	miR-17-92a-1 cluster host gene	21892160[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		7 cases	Worldwide	Case(s)	Validated	28159702[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_28159702[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

15 annotations · validated 2020-09-22

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000924	Abnormality of the skeletal system
HP:0001249	Intellectual disability
HP:0000252	Microcephaly
HP:0012758	Neurodevelopmental delay
HP:0005819	Short middle phalanx of finger
Frequent (79-30%)
HP:0001999	Abnormal facial shape
HP:0001156	Brachydactyly
HP:0005235	Jejunal atresia
HP:0004322	Short stature
HP:0009778	Short thumb
HP:0001770	Toe syndactyly
Occasional (29-5%)
HP:0000739	Anxiety
HP:0000708	Atypical behavior
HP:0000712	Emotional lability
HP:0001629	Ventricular septal defect

Run the differential on the 5 obligate / very frequent terms

Annotation source: 21892160[PMID]_25391829[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/391646
This record as JSON: /data/d/391646.json