Orofaciodigital syndrome type 18
Synonyms: OFD18 · Oral-facial-digital syndrome type 18 · Oral-facial-digital syndrome with short stature and brachymesophalangy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare developmental disorder of the ciliopathy group characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 18 | OFD18 · Oral-facial-digital syndrome type 18 · Oral-facial-digital syndrome with short stature and brachymesophalangy |
| fr | Syndrome orofaciodigital type 18 | OFD18 · Syndrome oro-facio-digital avec petite taille et brachymésophalangie |
| de | Oro-fazio-digitales Syndrom Typ 18 | OFD18 · Oro-Fazio-Digitales Syndrom mit Kleinwuchs und Brachymesophalangie |
| es | Síndrome orofaciodigital tipo 18 | OFD18 · Síndrome oral-facial-digital tipo 18 · Síndrome orofaciodigital con talla baja y braquimesofalangia |
| it | Sindrome orofaciodigitale tipo 18 | Sindrome oro-facio-digitale con bassa statura e brachimesofalangia · OFD18 · Sindrome oro-facio-digitale tipo 18 |
| nl | Orofaciodigitaal syndroom type 18 | OFD18 · Oraal-faciaal-digitaal syndroom met kleine gestalte en brachymesofalangie · Oraal-faciaal-digitaal syndroom type 18 |
| pt | Síndrome oro-facio-digital com baixa estatura e braquimesofalangia | |
| pl | Zespół ustno-twarzowo-palcowy typu 18 | OFD18 · Oralfacialdigital syndrome typu 18 · Zespół ustno-twarzowo-palcowy typu 18 |
| cs | Orofaciodigitální syndrom s malým vzrůstem a brachymezofalangií | OFD18 · Orofaciodigitální syndrom, typ 18 |
| uk | Орофаціодігітальний синдром з низьким зростом і брахімезофалангією | OFD18 · Орально-лицево-пальцевий синдром, тип 18 · Орофаціально-дигітальний синдром, тип 18 |
| zh | 口-面-指综合征伴有身材矮小和趾畸形 | 口-面-指综合征18型 |
| tr | Kısa boy ve brakiimofalangili ile seyreden oral-fasyal-dijital sendrom | OFD18 · Orofasiyodijital sendromu tip 18 · Oral-fasiyal-dijital sendromu tip 18 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617927 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0034823 | E | validated | |
| MONDO | 34823 | E | validated | |
| MONDO | 54770 | E | validated | |
| UMLS | C5567903 | 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:363250Ciliopathy
rare genetic diseases - 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFT57 | Disease-causing germline mutation(s) in | Assessed | HGNC:17367 | ENSG00000114446 | 606621 | 3q13.12-q13.13 | intraflagellar transport 57 | 27060890[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27060890[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27060890[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/508501
- This record as JSON: /data/d/508501.json