Velo-facial-skeletal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Velo-facial-skeletal syndrome | |
| fr | Syndrome vélo-facio-squelettique | |
| de | Velo-fazio-skelettales Syndrom | |
| es | Síndrome velo-facio-esquelético | |
| it | Sindrome velo-facio-scheletrica | |
| nl | Velo-faciaal-skeletaal syndroom | |
| pt | Síndrome velo-facio-esquelético | |
| pl | Zespół podniebienno-twarzowo-szkieletowy | |
| cs | Velofacioskeletální syndrom | |
| uk | Велофаціоскелетний синдром | |
| zh | 软腭-面-骨骼综合征 | |
| tr | Velo-fasial-iskelet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600736 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0010925 | E | validated | |
| MeSH | C536536 | E | validated | |
| UMLS | C1833380 | E | validated | |
| GARD | 5469 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic 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 | 2 cases | Worldwide | Case(s) | Validated | 7573161[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7573161[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0002705 | High, narrow palate | |
| HP:0000276 | Long face | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000324 | Facial asymmetry | |
| HP:0000316 | Hypertelorism | |
| HP:0001176 | Large hands | |
| HP:0000275 | Narrow face | |
| HP:0001622 | Premature birth | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0000506 | Telecanthus | |
| HP:0000474 | Thickened nuchal skin fold | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3424
- This record as JSON: /data/d/3424.json