Short stature-valvular heart disease-characteristic facies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-valvular heart disease-characteristic facies syndrome | |
| fr | Syndrome de petite taille-valvulopathie cardiaque-dysmorphie | |
| de | Kleinwuchs-Herzklappenfehler-charakteristisches Gesicht-Syndrom | Syndromaler Kleinwuchs mit Herzklappenfehler und charakteristischen Gesichtszügen |
| es | Síndrome de talla baja-valvulopatía cardíaca-facies característica | |
| it | Bassa statura - valvulopatia cardiaca - facies caratteristica | |
| nl | Kleine gestalte - hartklepaandoening - karakteristiek gelaat-syndroom | |
| pt | Síndrome de baixa estatura-valvulopatia cardíaca-face peculiar | |
| pl | Niski wzrost - choroba zastawki serca - charakterystyczny wygląd twarzy | |
| cs | Syndrom zahrnující malý vzrůst, onemocnění srdečních chlopní a charateristickou facies | |
| uk | Синдром низькорослості-клапанних вад серця-характерного обличчя | |
| zh | 身材矮小症-心脏瓣膜病-特征性面容综合征 | |
| tr | Kısa boy kalp kapak hastalığı-karakteristik fasiyes sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 126190 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0007461 | E | validated | |
| UMLS | C4274784 | 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: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
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 | 3 cases | Worldwide | Case(s) | Validated | 2302822[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2302822[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000678 | Dental crowding | |
| HP:0003498 | Disproportionate short stature | |
| HP:0000218 | High palate | |
| HP:0001382 | Joint hypermobility | |
| HP:0100729 | Large face | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000508 | Ptosis | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0200055 | Small hand | |
| Occasional (29-5%) | ||
| HP:0001252 | Hypotonia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2868
- This record as JSON: /data/d/2868.json