Clark-Baraitser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Clark-Baraitser syndrome | |
| fr | Syndrome de Clark-Baraitser | |
| de | Clark-Baraitser-Syndrom | |
| es | Síndrome de Clark-Baraitser | |
| it | Sindrome di Clark-Baraitser | |
| nl | Syndroom van Clark-Baraitser | |
| pt | Síndrome Clark-Baraitser | |
| pl | Zespół Clarka i Baraitsera | |
| cs | Clark-Baraitserův syndrom | |
| uk | Синдром Кларка-Барайзера | |
| zh | Clark-Baraitser syndrome | |
| tr | Clark-Baraitser syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617752 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0030914 | E | validated | |
| MeSH | C536208 | E | validated | |
| UMLS | C2931130 | E | validated | |
| GARD | 9994 | 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: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 - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine 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 | 8 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/600731
- This record as JSON: /data/d/600731.json