Melhem-Fahl syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare dysostosis characterized by the presence of fifteen dorsal vertebrae and rib pairs with a normal complement of lumbar vertebrae. Patients may also present with Hirschsprung's disease, membraneous imperforate anus with perineal fistula, cryptorchidism, high-arched palate, simian crease and absent nails. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melhem-Fahl syndrome | |
| fr | Syndrome de Melhem-Fahl | |
| de | Melhem-Fahl-Syndrom | |
| es | Síndrome de Melhem-Fahl | |
| it | Sindrome di Melhem-Fahl | |
| nl | Syndroom van Melhem-Fahl | |
| pt | Síndrome Melhem-Fahl | |
| pl | Zespół Melhema i Fahla | |
| cs | Melhemův-Fahlův syndrom | Melhem-Fahlův syndrom |
| uk | Синдром Мельгема-Фаля | |
| zh | Melhem-Fahl综合征 | |
| tr | Melhem-Fahl sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q76.4 | NTBT | attributed | validated |
| ICD-11 | LD24.H | NTBT | index | validated |
| MONDO | 0016622 | E | validated | |
| MeSH | C537238 | E | validated | |
| UMLS | C2931453 | E | validated | |
| GARD | 3462 | 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:93454Dysostosis with predominant vertebral and costal involvement
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 | 2 cases | Worldwide | Case(s) | Validated | 3969298[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3969298[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/2482
- This record as JSON: /data/d/2482.json