Craniodigital-intellectual disability syndrome
Synonyms: Scott craniodigital syndrome · Scott-Bryant-Graham syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal
- Status
- active
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniodigital-intellectual disability syndrome | Scott craniodigital syndrome · Scott-Bryant-Graham syndrome |
| fr | Syndrome cranio-digital-déficience intellectuelle | Syndrome cranio-digital de Scott · Syndrome de Scott-Bryant-Graham |
| de | Kraniodigitales Syndrom mit Intelligenzminderung | Kraniodigitales Syndrom Scott · Scott-Bryant-Graham-Syndrom |
| es | Síndrome craneodigital-discapacidad intelectual | Síndrome de Scott-Bryant-Graham · Síndrome craneodigital de Scott |
| it | Sindrome craniodigitale-disabilità intellettiva | Sindrome craniodigitale di Scott · Sindrome di Scott-Bryant-Graham |
| nl | Craniodigitaal - intellectuele achterstand-syndroom | Craniodigitaal syndroom van Scott · Syndroom van Scott-Bryant-Graham |
| pt | Síndrome cranio-digital-perturbação do desenvolvimento intelectual | Síndrome Scott-Bryant-Graham · Síndrome craniodigital Scott |
| pl | Zespół czaszkowo-palcowy - niepełnosprawność intelektualna | Zespół czaszkowo-palcowy Scotta · Zespół Scotta, Bryanta i Grahama |
| cs | Kraniodigitální syndrom s mentální retardací | Scottův kraniodigitální syndrom · Scottův-Bryantův-Grahamův syndrom · Scott-Bryant-Grahamův syndrom |
| uk | Краніодігітальний-інтелектуальної недостатності синдром | Краніодигітальний синдром Скотта · Синдром Скотта-Брайанта-Грема |
| zh | 颅-指-智力障碍综合征 | Scott-Bryant-Graham综合征 |
| tr | Kraniyodijital-zihinsel yetersizlik sendromu | Scott kraniyodijital sendromu · Scott-Bryant-Graham sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312860 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0015463 | E | validated | |
| MeSH | C537528 | E | validated | |
| UMLS | C1839311 | E | validated | |
| GARD | 4776 | 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 | 5 cases | Worldwide | Case(s) | Validated | 17715284[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17715284[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:0007477 | Abnormal dermatoglyphics | |
| HP:0010720 | Abnormal hair pattern | |
| HP:0000248 | Brachycephaly | |
| HP:0006101 | Finger syndactyly | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001249 | Intellectual disability | |
| HP:0000527 | Long eyelashes | |
| HP:0000347 | Micrognathia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000574 | Thick eyebrow | |
| HP:0100874 | Thick hair | |
| Occasional (29-5%) | ||
| HP:0003298 | Spina bifida occulta | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1514
- This record as JSON: /data/d/1514.json