ORPHA:420561
Temple-Baraitser syndrome
Synonyms: Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Temple-Baraitser syndrome | Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS |
| fr | Syndrome de Temple-Baraitser | Syndrome de déficit intellectuel sévère-aplasie/hypoplasie du pouce et de l'hallux · TMBTS |
| de | Temple-Baraitser-Syndrom | Schwere Intelligenzminderung-Aplasia/Hypoplasie des Daumens und Hallux-Syndrom · TMBTS |
| es | Síndrome de Temple-Baraitser | Síndrome de discapacidad intelectual grave-aplasia/hipoplasia del pulgar y el hallux · TMBTS |
| it | Sindrome di Temple-Baraitser | Sindrome disabilità cognitiva grave-aplasia/ipoplasia del pollice e dell'alluce |
| nl | Syndroom van Temple-Baraitser | Ernstige intellectuele achterstand - aplasie/hypoplasie van duim en hallux-syndroom · TMBTS |
| pt | Síndrome Temple-Baraitser | |
| pl | Zespół Temple i Baraitsera | TMBTS · Zespół ciężkiej niepełnosprawności intelektualnej i aplazji/hipoplazji kciuka i palucha |
| cs | Templové-Baraitserův syndrom | Syndrom zahrnující těžkou mentální retardaci a aplázii/hypoplázii palců horních a dolních končetin · Temple-Baraitserův syndrom |
| uk | Синдром Темпла-Барайзера | Тяжка розумова відсталість - аплазія/гіпоплазія великого пальця та синдром клишоногості · TMBTS |
| zh | Temple-Baraitser综合征 | 严重智力障碍-拇指和拇趾指综合症的轻度发育不良 |
| tr | Temple-Baraitser sendromu | TMBTS · Ağır zihinsel yetersizlik-aplazi/başparmak hipoplazisi ve halluks sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611816 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0012735 | E | validated | |
| MeSH | C567516 | E | validated | |
| UMLS | C2678486 | E | validated | |
| GARD | 9441 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNH1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6250 | ENSG00000143473 | 603305 | 1q32.2 | potassium voltage-gated channel subfamily H member 1 | 25420144[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 27282200[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27282200[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.
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HPO phenotypes
48 annotations · validated 2019-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001344 | Absent speech | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0001488 | Bilateral ptosis | |
| HP:0011304 | Broad thumb | |
| HP:0000280 | Coarse facial features | |
| HP:0002019 | Constipation | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000316 | Hypertelorism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000527 | Long eyelashes | |
| HP:0001847 | Long hallux | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0002058 | Myopathic facies | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0000574 | Thick eyebrow | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0012555 | Absent nail of hallux | |
| HP:0001802 | Absent toenail | |
| HP:0000463 | Anteverted nares | |
| HP:0006016 | Delayed phalangeal epiphyseal ossification | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0010803 | Everted upper lip vermilion | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0009890 | High anterior hairline | |
| HP:0000218 | High palate | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0012553 | Hypoplastic thumbnail | |
| HP:0000294 | Low anterior hairline | |
| HP:0000272 | Malar flattening | |
| HP:0000194 | Open mouth | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0009660 | Short phalanx of the thumb | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0009928 | Thick nasal alae | |
| HP:0009648 | Triangular shaped distal phalanx of the thumb | |
Annotation source: 26818738[PMID]_25629734[PMID]_25420144[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420561
- This record as JSON: /data/d/420561.json