Orofaciodigital syndrome type 11
Synonyms: OFD11 · Oral-facial-digital syndrome type 11 · Oral-facial-digital syndrome, Gabrielli type · Orofaciodigital syndrome, Gabrielli type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare, sporadic, orofaciodigital syndrome characterized by severe intellectual disability, postaxial polydactyly, vertebral fusion, deafness and congenital heart defects. Characteristic facial features include blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low-set ears.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 11 | OFD11 · Oral-facial-digital syndrome type 11 · Oral-facial-digital syndrome, Gabrielli type · Orofaciodigital syndrome, Gabrielli type |
| fr | Syndrome oro-facio-digital type 11 | OFD11 · Syndrome oro-facio-digital type Gabrielli |
| de | Oro-fazio-digitales Syndrom Typ 11 | OFD11 · Oro-fazio-digitales Syndrom Typ Gabrielli |
| es | Síndrome orofaciodigital tipo 11 | OFD11 · Síndrome orofaciodigital tipo Gabrielli |
| it | Sindrome orofaciodigitale, tipo 11 | OFD11 · Sindrome oro-facio-digitale, tipo 11 · Sindrome oro-facio-digitale, tipo Gabrielli · Sindrome orofaciodigitale, tipo Gabrielli |
| nl | Orofaciodigitaal syndroom type 11 | Orofaciodigitaal syndroom, Gabrielli-type · OFD11 · Oraal-faciaal-digitaal syndroom type 11 · Oraal-faciaal-digitaal syndroom, Gabrielli-type |
| pt | Síndrome orofaciodigital tipo 11 | |
| pl | Zespół ustno-twarzowo-palcowy typu 11 | OFD11 · Zespół ustno-twarzowo-palcowy, typ Gabrielli |
| cs | Orofaciodigitální syndrom, typ 11 | OFD11 · Orální-faciální-digitální syndrom, Gabrielliho typ · Orofaciodigitální syndrom, Gabrielliho typ |
| uk | Орофаціодигітальний синдром, тип 11 | OFD11 · Орально-лицево-пальцевий синдром, тип 11 · Орально-лицево-пальцевий синдром, тип Габрієллі · Орофаціально-пальцевий синдром, тип Габрієллі |
| zh | 口面指综合征11型 | 口面指综合征Gabrielli型 |
| tr | Orofasiyodijital sendromu tip 11 | OFD11 · Oral-fasiyal-dijital sendromu tip 11 · Orofasiyodijital sendromu, Gabrielli tipi · Oral-fasiyal-dijital sendromu, Gabrielli tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612913 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0013035 | E | validated | |
| MeSH | C557821 | E | validated | |
| UMLS | C2752048 | E | validated | |
| GARD | 4118 | 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:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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 / 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/141000
- This record as JSON: /data/d/141000.json