ORPHA:444072
Cerebellar-facial-dental syndrome
Synonyms: Cerebellofaciodental syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar-facial-dental syndrome | Cerebellofaciodental syndrome |
| fr | Syndrome cérébellofaciodentaire | |
| de | Zerebello-fazio-dentales Syndrom | |
| es | Síndrome cerebeloso-facial-dental | Síndrome cerebelofaciodental |
| it | Sindrome cerebello-facio-dentale | Sindrome cerebellofaciodentale |
| nl | Cerebellair-faciaal-dentaal syndroom | Cerebello-facio-dentaal syndroom |
| pt | Síndrome cerebeloso-facial-dentária | Síndrome cerebelo-facio-dentária |
| pl | Zespół móżdżkowo-twarzowo-zębowy | = en |
| cs | Cerebelofaciodentální syndrom | Cerebelární-faciální-dentální syndrom |
| uk | Мозочково-лицево-зубний синдром | Мозочково-лицьовий синдром |
| zh | 小脑面齿综合征 | 小脑面齿综合征 |
| tr | Serebellar-yüz-diş sendromu | Serebellofasiyodental sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616202 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014529 | E | validated | |
| UMLS | C4015495 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:420755Rare genetic odontal or periodontal disorder
rare genetic diseases - ORPHA:164001Rare odontal or periodontal disorder
rare odontological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRF1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11551 | ENSG00000185024 | 604902 | 14q32.33 | BRF1 general transcription factor IIIB subunit | 25561519[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 25561519[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25561519[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.
6
HPO phenotypes
52 annotations · validated 2019-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000689 | Dental malocclusion | |
| HP:0002213 | Fine hair | |
| HP:0001263 | Global developmental delay | |
| HP:0000675 | Macrodontia of permanent maxillary central incisor | |
| HP:0000252 | Microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0000679 | Taurodontia | |
| Frequent (79-30%) | ||
| HP:0009085 | Alveolar ridge overgrowth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0001508 | Failure to thrive | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0006511 | Laryngeal stridor | |
| HP:0002465 | Poor speech | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0002418 | Abnormality of midbrain morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0008366 | Foot joint contracture | |
| HP:0000126 | Hydronephrosis | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0011406 | Infancy onset short-trunk short stature | |
| HP:0007068 | Inferior vermis hypoplasia | |
| HP:0000023 | Inguinal hernia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001601 | Laryngomalacia | |
| HP:0002509 | Limb hypertonia | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0007835 | S-shaped palpebral fissures | |
| HP:0003510 | Severe short stature | |
| HP:0000470 | Short neck | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0003100 | Slender long bone | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 25561519[PMID]_27748960[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444072
- This record as JSON: /data/d/444072.json