Carney complex-trismus-pseudocamptodactyly syndrome
Synonyms: Carney complex variant
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carney complex-trismus-pseudocamptodactyly syndrome | Carney complex variant |
| fr | Syndrome complexe de Carney-trismus-pseudocamptodactylie | Variant du complexe de Carney |
| de | Carney-Komplex-Trismus-Pseudokamptodaktylie-Syndrom | Carney-Komplex, Variante |
| es | Síndrome del complejo de Carney-trismo-pseudocamptodactilia | Variante del complejo de Carney |
| it | Sindrome complesso di Carney, trismo, pseudocamptodattilia | Variante del complesso di Carney |
| nl | Carney-complex - trismus - pseudocamptodactylie-syndroom | Variant van Carney-complex |
| pt | Síndrome do complexo de Carney-trismus-pseudocamptodactilia | |
| pl | Zespół kompleks Carney'a-szczękościsk-kamptodaktylia rzekoma | Wariant kompleksu Carney'a |
| cs | Syndrom zahrnující Carneyho komplex, trismus a pseudokamptodaktylii | Varianta Carneyho komplex |
| uk | Синдром ниркового комплексу-тризму-псевдокампактодактилії | Варіант карніального комплексу |
| zh | Carney综合征-牙关紧闭-假屈曲指综合征 | Carney综合征变体 |
| tr | Carney kompleksi-trismus-psödokamptodaktili sendromu | Carney kompleks varyantı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608837 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | 5A70.Y | NTBT | attributed | validated |
| MONDO | 0012137 | E | validated | |
| UMLS | C4553889 | 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):
Parents in the classifications (5):
- ORPHA:271841Genetic cardiac tumor
rare genetic diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:228184Heart-hand syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:168194Rare cardiac tumor
rare cardiac diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH8 | Disease-causing germline mutation(s) in | Assessed | HGNC:7578 | ENSG00000133020 | 160741 | 17p13.1 | myosin heavy chain 8 | 15282353[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 15282353[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15282353[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/319340
- This record as JSON: /data/d/319340.json