ORPHA:238578

Familial clubfoot due to 17q23.1q23.2 microduplication

Synonyms: Hereditary clubfoot due to 17q23.1-q23.2 microduplication

17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial clubfoot due to 17q23.1q23.2 microduplication	Hereditary clubfoot due to 17q23.1-q23.2 microduplication
fr	Pied bot familial dû à une microduplication 17q23.1q23.2	Pied bot héréditaire dû à une microduplication 17q23.1-q23.2
de	Klumpfuß, familiärer isolierter, durch Mikroduplikationssyndrom 17q23.1-q23.2
es	Pie zambo familiar por microduplicación 17q23.1q23.2	Pie zambo hereditario por microduplicación 17q23.1-q23.2
it	Piede torto familiare da microduplicazione 17q23.1-q23.2	Piede torto ereditario da microduplicazione 17q23.1-q23.2
nl	Familiale klompvoet door 17q23.1q23.2-microduplicatie	Erfelijke klompvoet door 17q23.1-q23.2-microduplicatie
pt	Pé boto isolado familiar por síndrome de microduplicação do 17q23.1-q23.2
pl	Rodzinna stopa końsko-szpotawa z powodu mikrodulikacji 17q23.1q23.2	Dziedziczna stopa końsko-szpotawa z powodu mikrodulikacji 17q23.1-q23.2
cs	Familiární pes equinovarus způsobený mikroduplikací 17q23.1q23.2	Hereditární pes equinovarus způsobený mikroduplikací 17q23.1q23.2
uk	Сімейна клишоногість внаслідок мікродуплікації 17q23.1q23.2	Спадкова клишоногість внаслідок мікродуплікації 17q23.1-q23.2
zh	染色体17q23.1q23.2微重复所致家族性畸形足	染色体17q23.1-q23.2微重复所致家族性畸形足
tr	17q23.1q23.2 mikroduplikasyon nedeniyle ailesel çarpık ayak	17q23.1-q23.2 mikroduplikasyonuna bağlı kalıtsal yumru ayak

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613618	E		validated
ICD-10	Q66.8	NTBT	attributed	validated
ICD-11	LD41.G0	NTBT	index	validated
MONDO	0013329	E		validated
UMLS	C3150880	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:199315Familial clubfoot with or without associated lower limb anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:262968Partial duplication of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TBX4	Role in the phenotype of	Assessed	HGNC:11603	ENSG00000121075	601719	17q23.2	T-box transcription factor 4	20598276[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 families	Worldwide	Family(ies)	Validated	20598276[PMID]_22678995[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_20598276[PMID]_22678995[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.

4 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001762	Talipes equinovarus
Frequent (79-30%)
HP:0004322	Short stature
Occasional (29-5%)
HP:0001385	Hip dysplasia
HP:0001800	Hypoplastic toenails