Orofaciodigital syndrome type 9
Synonyms: OFD9 · Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities · Orofaciodigital syndrome with retinal abnormalities
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental disorder of the ciliopathy group characterized by highly arched palate with bifid and lobulated tongue, lingual hamartoma, multiple frenula, bilateral supernumerary lower canines, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, poly- and syndactyly, mild intellectual disability and specific retinal abnormalities mostly retinal coloboma. Brain structural anomalies may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 9 | OFD9 · Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities · Orofaciodigital syndrome with retinal abnormalities |
| fr | Syndrome oro-facio-digital type 9 | OFD9 · Syndrome oro-facio-digital avec anomalies rétiniennes |
| de | Oro-fazio-digitales Syndrom Typ 9 | OFD9 · Oro-fazio-digitales Syndrom mit retinalen Anomalien |
| es | Síndrome orofaciodigital tipo 9 | OFD9 · Síndrome orofaciodigital con anomalías de la retina |
| it | Sindrome orofaciodigitale, tipo 9 | OFD9 · Sindrome oro-facio-digitale con anomalie retiniche · Sindrome oro-facio-digitale, tipo 9 · Sindrome orofaciodigitale con anomalie retiniche |
| nl | Orofaciodigitaal syndroom type 9 | OFD9 · Oraal-faciaal-digitaal syndroom met retinale afwijkingen · Oraal-faciaal-digitaal syndroom type 9 · Orofaciodigitaal syndroom met retinale afwijkingen |
| pt | Síndrome orofaciodigital tipo 9 | |
| pl | Zespół ustno-twarzowo-palcowy typu 9 | OFD9 · Zespół ustno-twarzowo-palcowy z nieprawidłowościami siatkówki |
| cs | Orofaciodigitální syndrom, typ 9 | OFD9 · Orální-faciální-digitální syndrom s abnormalitami sítnice · Orofaciodigitální syndrom s abnormalitami sítnice |
| uk | Орофаціодигітальний синдром, тип 9 | OFD9 · Орально-лицево-пальцевий синдром, тип 9 · Орально-лицево-пальцевий синдром з аномаліями сітківки · Орофаціально-пальцевий синдром з аномаліями сітківки |
| zh | 口面指综合征9型 | 口面指综合征伴视网膜异常 |
| tr | Orofasiyodijital sendromu tip 9 | OFD9 · Oral-fasiyal-dijital sendromu tip 9 · Retina anormallikleri olan orofasiyodijital sendromu · Retina anormallikleri olan oral-fasiyal-dijital sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258865 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0009795 | E | validated | |
| MeSH | C557818 | E | validated | |
| UMLS | C0796102 | E | validated | |
| GARD | 10520 | 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:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBC1D32 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21485 | ENSG00000146350 | 615867 | 6q22.31 | TBC1 domain family member 32 | 32060556[PMID] |
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/141007
- This record as JSON: /data/d/141007.json