ORPHA:52056
Ulnar/fibula ray defect-brachydactyly syndrome
Synonyms: Morava-Mehes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ulnar/fibula ray defect-brachydactyly syndrome | Morava-Mehes syndrome |
| fr | Syndrome d'hypoplasie du péroné et du cubitus-brachydactylie | Syndrome de Morava-Mehes |
| de | Ulna-Fibula-Strahldefekt-Brachydaktylie-Syndrom | Morava-Mehes-Syndrom |
| es | Síndrome de defecto de rayo cubital/peroneo-braquidactilia | Síndrome de Morava-Mehes |
| it | Difetto ulna-fibula con brachidattilia | Sindrome di Morava-Mehes |
| nl | Ulna/fibulalijndefect - brachydactylie-syndroom | Syndroom van Morava-Mehes |
| pt | Síndrome de defeito radial do cúbito/fíbula-braquidactilia | Síndrome Morava-Mehes |
| pl | Defekt promieniowy kości łociowej/kości strzałkowej - brachydaktylia | Zespół Morava i Mehesa |
| cs | Syndrom zahrnující defekt ulnárního/fibulárního paprsku a brachydaktylii | Moravové-Mehesův syndrom · Morava-Mehesův syndrom |
| uk | Синдром дефекту ліктьового/малоберцового променя-брахідактилія | Синдром Морава-Мехеса |
| zh | 尺/腓侧指和掌/跖骨缺损-短指综合征 | Morava-Mehes综合征 |
| tr | Ulna / fibula ışını defekti-brakidaktili sendromu | Morava-Mehes sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608571 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0012063 | E | validated | |
| UMLS | C4304397 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 14564152[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14564152[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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001510 | Growth delay | |
| Frequent (79-30%) | ||
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0001156 | Brachydactyly | |
| HP:0000272 | Malar flattening | |
| HP:0009237 | Short 5th finger | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001028 | Hemangioma | |
| HP:0006210 | Postaxial oligodactyly | |
| HP:0001773 | Short foot | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52056
- This record as JSON: /data/d/52056.json