ORPHA:498693

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Synonyms: MYBPC1-related autosomal recessive non-lethal AMC syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Neonatal
Status: active

A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and <i>pectus excavatum</i>, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	MYBPC1-related autosomal recessive non-lethal AMC syndrome
fr	Syndrome d'arthrogrypose multiple congénitale non létal autosomique récessive associé à MYBPC1	Syndrome d'AMC non létal autosomique récessive associé à MYBPC1
de	Arthrogryposis multiplex congenita-Syndrom, autosomal-rezessives, nicht-letales, MYBPC1-assoziiertes	MYBPC1-assoziiertes autosomal-rezessives nicht-letales AMC-Syndrom
es	Síndrome de artrogriposis múltiple congénita no letal autosómica recesiva asociada a MYBPC1	Síndrome de AMC no letal autosómica recesiva asociada a MYBPC1
it	Artrogriposi multipla congenita non letale autosomica recessiva correlata a MYBPC1
nl	MYBPC1-gerelateerd autosomaal recessief niet-letaal arthrogryposis multiplex congenita-syndroom	MYBPC1-gerelateerd autosomaal recessief niet-letaal AMC-syndroom
pt	Síndrome de artrogripose múltipla congénita não letal autossómica recessiva MYBPC1-relacionada
pl	Zespół nie-letalnej autosomalnej recesywnej mnogiej artrogrypozy wrodzonej związanej z MYBPC1	= en
cs	MYBPC1-vázaná autozomálně recesivní neletální arthrogryposis multiplex congenita	MYBPC1-related autosomal recessive non-lethal AMC syndrome · Autozomálně recesivní neletální syndrom AMC související s MYBPC1
uk	Повязаний з MYBPC1 аутосомно-рецесивний нелетальний синдром вродженого множинного артрогрипозу	Повязаний з MYBPC1 аутосомно-рецесивний нелетальний АМС-синдром
zh	MYBPC1相关的常染色体隐性非致死性多发性先天性关节病综合征	= en
tr	MYBPC1 ile ilgili otozomal resesif non-letal artrogripozis multipleks konjenita sendromu	MYBPC1 ile ilişkili otozomal resesif letal olmayan AMC sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q74.3	NTBT	attributed	validated
MONDO	0044682	E		validated
UMLS	C5680092	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:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MYBPC1	Disease-causing germline mutation(s) in	Assessed	HGNC:7549	ENSG00000196091	160794	12q23.2	myosin binding protein C1	26661508[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	26661508[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_26661508[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

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/498693
This record as JSON: /data/d/498693.json