Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Synonyms: Stratton-Garcia-Young syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome | Stratton-Garcia-Young syndrome |
| fr | Syndrome de brachydactylie-mésomélie-déficience intellectuelle-malformations cardiaques | Syndrome de Stratton-Garcia-Young |
| de | Brachydaktylie-Mesomelie-Intelligenzminderung-Herzfehler-Syndrom | Stratton-Garcia-Young-Syndrom |
| es | Síndrome de braquidactilia-mesomelia-discapacidad intelectual-malformaciones cardíacas | Síndrome de Stratton-Garcia-Young |
| it | Sindrome brachidattilia-mesomelia-disabilità intellettiva-cardiopatie | Sindrome di Stratton-Garcia-Young |
| nl | Brachydactylie - mesomelie - intellectuele achterstand - hartdefecten-syndroom | Syndroom van Stratton-Garcia-Young |
| pt | Síndrome de braquidactilia-mesomelia-perturbação do desenvolvimento intelectual-defeitos cardíacos | Síndrome Stratton-Garcia-Young |
| pl | Brachydaktylia - mezomelia - niepełnosprawność intelektualna - wady serca | Zespół Strattona, Garcia i Younga |
| cs | Syndrom zahrnující brachydaktylii, mezomelii, mentální retardaci a srdeční vady | Strattonův-Garciaův-Youngův syndrom · Stratton-Garcia-Youngův syndrom |
| uk | Синдром брахідактилії-мезомелії-інтелектуальної недостатності-серцевих вад | Синдром Страттона-Гарсія-Янга |
| zh | 短指畸形-智力低下-心脏缺陷综合征 | Stratton-Garcia-Young综合征 |
| tr | Brakidaktili-mezomeli-zihinsel yetersizlik-kalp defektleri sendromu | Stratton-Garcia-Young sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015259 | E | validated | |
| UMLS | C4707567 | E | validated | |
| GARD | 5036 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 8484398[PMID]_8074158[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8484398[PMID]_8074158[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0001156 | Brachydactyly | |
| HP:0100543 | Cognitive impairment | |
| HP:0000444 | Convex nasal ridge | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0100818 | Long thorax | |
| HP:0003027 | Mesomelia | |
| HP:0000347 | Micrognathia | |
| HP:0009804 | Tooth agenesis | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1277
- This record as JSON: /data/d/1277.json