Hunter-McAlpine syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hunter-McAlpine syndrome | |
| fr | Syndrome de Hunter-McAlpine | |
| de | Hunter-McAlpine -Syndrom | |
| es | Síndrome de Hunter-McAlpine | |
| it | Sindrome di Hunter-McAlpine | |
| nl | Syndroom van Hunter-McAlpine | |
| pt | Síndrome Hunter-McAlpine | |
| pl | Kraniosynostoza Hunter i McAlpine | Zespół Hunter-McAlpine |
| cs | Hunter-McAlpinové syndrom | Hunter-McAlpinové kraniosynostóza |
| uk | Синдром Хантера-МакАльпайна | |
| zh | Hunter-McAlpine型颅缝早闭症 | |
| tr | Hunter-McAlpine kraniyosinostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601379 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0011065 | E | validated | |
| MeSH | C536072 | E | validated | |
| UMLS | C1832408 | E | validated | |
| GARD | 2754 | 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:98038Cranial malformation
rare developmental anomalies during embryogenesis
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 | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/97340
- This record as JSON: /data/d/97340.json