Oromandibular-limb hypogenesis syndrome
Synonyms: Oroacral syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- Infancy, Neonatal
- Status
- active
Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oromandibular-limb hypogenesis syndrome | Oroacral syndrome |
| fr | Syndrome oromandibulaire-réduction des membres | Syndrome oro-acral |
| de | Syndrom mit oro-mandibulärer und Gliedmaßen-Hypogenesis | Oro-akrales Syndrom |
| es | Síndrome de hipogenesia oromandibular y de extremidades | |
| it | Sindrome oromandibolare-ipogenesia degli arti | Sindrome oroacrale |
| nl | Oromandibulaire hypogenesie - hypogenesie van ledematen-syndroom | Oroacraal syndroom |
| pt | Síndrome de hipogenesia oro-mandibular e dos membros | Síndrome oro-acral |
| pl | Zespół hipogenezji ustno-żuchwowo-kończynowej | Zespół ustno-kończynowy |
| cs | Oroakrální syndrom | Syndrom oromandibulární a končetinové hypogeneze |
| uk | Синдром щелепно-лицьового та кінцівкового гіпогенезу | Ороакральний синдром |
| zh | 口颚肌-肢体发育不良综合征 | 口肢端综合征 |
| tr | Oromandibular-ekstremite hipogenez sendromu | Oroakral sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017139 | E | validated | |
| MONDO | 17139 | E | validated | |
| UMLS | C5679764 | E | validated | |
| GARD | 4116 | 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 (2):
- ORPHA:364571Dysostosis with limb and face anomalies as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:156215Oromandibular-limb anomalies syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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/2749
- This record as JSON: /data/d/2749.json