Orofaciodigital syndrome type 8
historical
Synonyms: OFD8 · Oral-facial-digital syndrome type 8 · Oral-facial-digital syndrome, Edwards type · Orofaciodigital syndrome, Edwards type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare orofaciodigital syndrome characterized by hypertelorism, telecanthus, broad and bifid nasal tip, median cleft of the upper lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, hypoplasia of the epiglottis, arytenoid cartilages, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, bifid halluces, short stature, and mild intellectual deficiency. Absent corpus callosum, hydrocephalus, atrioventricular septal defect and recurrent aspiration pneumonia, have also been reported. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 8 | OFD8 · Oral-facial-digital syndrome type 8 · Oral-facial-digital syndrome, Edwards type · Orofaciodigital syndrome, Edwards type |
| fr | Syndrome oro-facio-digital type 8 | OFD8 · Syndrome oro-facio-digital type Edwards |
| de | Oro-fazio-digitales Syndrom Typ 8 | Oro-fazio-digitales Syndrom vom Edwards Typ · OFD8 |
| es | Síndrome orofaciodigital tipo 8 | OFD8 · Síndrome orofaciodigital tipo Edwards |
| it | Sindrome orofaciodigitale, tipo 8 | OFD8 · Sindrome oro-facio-digitale, tipo 8 · Sindrome oro-facio-digitale, tipo Edwards · Sindrome orofaciodigitale, tipo Edwards |
| nl | Orofaciodigitaal syndroom type 8 | OFD8 · Oraal-faciaal-digitaal syndroom type 8 · Oraal-faciaal-digitaal syndroom, Edwards-type · Orofaciodigitaal syndroom, Edwards-type |
| pt | Síndrome oro-facio-digital tipo 8 | OFD8 · Síndrome oro-facio-digital com anomalias da retina |
| pl | Zespół ustno-twarzowo-palcowy typu 8 | Zespół ustno-twarzowo-palcowy, typ Edwardsa · OFD8 · Zespół ustno-twarzowo-palcowy typu 8 · Zespół ustno-twarzowo-palcowy, typ Edwardsa |
| cs | Orofaciodigitální syndrom, typ 8 | OFD8 |
| uk | Орофаціодигітальний синдром, тип 8 | OFD8 · Орально-лицево-пальцевий синдром, тип 8 · Орально-лицево-пальцевий синдром, тип Едвардса · Орофаціально-дигітальний синдром, тип Едвардса |
| zh | 口面指综合征8型 | 口-面-指综合征，Edwards型 |
| tr | Orofasiyodijital sendrom tip 8 | OFD8 · Oral-fasiyal-dijital sendromu tip 8 · Orofasiyodijital sendromu, Edwards tipi · Oral-fasiyal-dijital sendrom, Edwards tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300484 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0010336 | E | validated | |
| MeSH | C557820 | E | validated | |
| UMLS | C0796101 | E | validated | |
| GARD | 4060 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT]_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/2755
- This record as JSON: /data/d/2755.json