ORPHA:720341

Otofaciocervical syndrome without thymic hypoplasia

Synonyms: Fara-Chlupackova syndrome type 1 · OFC syndrome type 1 · OTFCS1 · Otofaciocervical syndrome without hypoplasia of the thymus · Otofaciocervical syndrome type 1

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Otofaciocervical syndrome without thymic hypoplasia	Fara-Chlupackova syndrome type 1 · OFC syndrome type 1 · OTFCS1 · Otofaciocervical syndrome without hypoplasia of the thymus · Otofaciocervical syndrome type 1
fr	Syndrome oto-facio-cervical sans hypoplasie thymique	OTFCS1 · Syndrome OFC type 1 · Syndrome de Fara-Chlupackova type 1 · Syndrome oto-facio-cervical sans hypoplasie du thymus · Syndrome oto-facio-cervical type 1
de	Oto-fazio-zervikales Syndrom ohne Thymus-Hypoplasie	Oto-fazio-zervikales Syndrom Typ 1 · OTFCS1 · OFC-Syndrom Typ 1 · Fara-Chlupackova-Syndrom Typ 1
es	Síndrome otofaciocervical sin hipoplasia tímica	Síndrome de Fara-Chlupackova tipo 1 · Síndrome OFC tipo 1 · OTFCS1 · Síndrome otofaciocervical sin hipoplasia del timo · Síndrome otofaciocervical tipo 1
it	Sindrome oto-facio-cervicale senza ipoplasia timica	Sindrome Fara-Chlupackova tipo 1 · Sindrome otofacio-cervicale tipo 1 · Sindrome oto-facio-cervicale senza ipoplasia del timo · OTFCS1 · Sindrome OFC tipo 1 · Sindrome di Fara-Chlupackova tipo 1
nl	Otofaciocervicaal syndroom zonder hypoplasie van thymus	OTFCS1 · OFC syndroom type 1 · Syndroom van Fara-Chlupackova type 1 · Otofaciocervicaal syndroom type 1
pt	Otofaciocervical syndrome without thymic hypoplasia
pl	Otofaciocervical syndrome without thymic hypoplasia	= en
cs	Otofaciocervical syndrome without thymic hypoplasia	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	166780	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:2792Otofaciocervical syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
EYA1	Disease-causing germline mutation(s) in	Assessed	HGNC:3519	ENSG00000104313	601653	8q13.3	EYA transcriptional coactivator and phosphatase 1	16441263[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/720341
This record as JSON: /data/d/720341.json