Mononen-Karnes-Senac syndrome
historical
Synonyms: Skeletal dysplasia-brachydactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare dysostosis with brachydactyly without extraskeletal manifestations characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with fibular overgrowth. Females were reported to exhibit phenotypic variation and be less severely affected than males who were similarly affected. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mononen-Karnes-Senac syndrome | Skeletal dysplasia-brachydactyly syndrome |
| fr | Syndrome de Mononen-Karnes-Senac | Syndrome de dysplasie squelettique-brachydactylie |
| de | Mononen-Karnes-Senac-Syndrom | Skelettdysplasie-Brachydaktylie-Syndrom |
| es | Síndrome de Mononen-Karnes-Senac | Síndrome de displasia esquelética-braquidactilia |
| it | Sindrome di Mononen-Karnes-Senac | Displasia scheletrica - brachidattilia |
| nl | Syndroom van Mononen-Karnes-Senac | Skeletdysplasie - brachydactylie-syndroom |
| pt | Síndrome Mononen-Karnes-Senac | Síndrome de displasia óssea-braquidactilia |
| pl | Zespół Mononena, Karnesa i Senac | Dysplazja szkieletowa - brachydaktylia |
| cs | Mononenové-Karnesové-Senacův syndrom | Syndrom zahrnující skeletální dysplázii a brachydaktylii · Mononen-Karnes-Senacův syndrom |
| uk | Синдром Мононена-Карнеса-Сенака | Синдром скелетної дисплазії-брахідактилії |
| zh | Mononen-Karnes-Senac综合征 | Mononen-Karnes-Senac综合征 |
| tr | Mononen-Karnes-Senac sendromu | İskelet displazisi-brakidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301940 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0010538 | E | validated | |
| MeSH | C535914 | E | validated | |
| UMLS | C2931060 | E | validated | |
| GARD | 4886 | 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 (1):
- ORPHA:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 1632443[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1632443[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/2565
- This record as JSON: /data/d/2565.json