ORPHA:708019

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Synonyms: CHDE · Congenital heart defects and ectodermal dysplasia · TEBC syndrome · Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Neonatal
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome	CHDE · Congenital heart defects and ectodermal dysplasia · TEBC syndrome · Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome
fr	Syndrome de malformation cardiaque congénitale-dysplasie ectodermique-brachydactylie-télangiectasie	CHDE · Malformation cardiaque congénitale-dysplasie ectodermique · Syndrome TEBC · Syndrome de télangiectasie-dysplasie ectodermique-brachydactylie-anomalie cardiaque
de	Kongenitaler Herzfehler-Ektodermale Dysplasie-Brachydaktylie-Telangiektasie-Syndrom	Angeborene Herzfehler und ektodermale Dysplasie · CHDE · TEBC-Syndrom · Telangiektasie-ektodermale Dysplasie-Brachydaktylie-Herzanomalie-Syndrom
es	Síndrome de defectos cardíacos congénitos-displasia ectodérmica-braquidactilia-telangiectasia	CHDE · Defectos cardíacos congénitos y displasia ectodérmica · Síndrome TEBC · Síndrome de telangiectasia-displasia ectodérmica-braquidactilia-anomalía cardíaca
it	Sindrome cardiopatia congenita-displasia ectodermica-brachidattilia-telangectasia	CHDE · Cardiopatia congenita e displasia ectodermica · Sindrome TEBC · Sindrome telangectasia-displasia ectodermica-brachidattilia-cardiopatia
nl	Congenitaal hartdefect - ectodermale dysplasie - brachydactylie - teleangiëctasie-syndroom	CHDE · Congenitale hartdefecten en ectodermale dysplasie · TEBC-syndroom · Teleangiëctasie - ectodermale dysplasie - brachydactylie - hartanomalie-syndroom
pt	Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome
pl	Zespół z wrodzoną wada serca, dysplazją ektodermalną, brachydaktylią i teleangiektazją	= en
cs	Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	617364	E		validated
ICD-10	Q87.8	NTBT	attributed	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 (4):

ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PRKD1	Disease-causing germline mutation(s) in	Assessed	HGNC:9407	ENSG00000184304	605435	14q12	protein kinase D1	27479907[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		3 cases	Worldwide	Case(s)	Validated	27479907[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	27479907[PMID]_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.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/708019
This record as JSON: /data/d/708019.json