ORPHA:1777
Temtamy syndrome
Synonyms: Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Temtamy syndrome | Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome |
| fr | Syndrome de Temtamy | Syndrome de Temtamy-Shalash · Syndrome de dysmorphie craniofaciale-colobome-agénésie du corps calleux |
| de | Temtamy-Syndrom | Kraniofaziale Dysmorphien - Kolobome - Corpus-callosum-Agenesie · Temtamy-Shalash-Syndrom |
| es | Síndrome de Temtamy | Dismorfia craneofacial-coloboma-agenesia del cuerpo calloso · Síndrome de Temtamy-Shalash |
| it | Sindrome di Temtamy | Dismorfismi craniofacciali - coloboma - agenesia del corpo calloso · Sindrome di Temtamy-Shalash |
| nl | Syndroom van Temtamy | Craniofaciale dysmorfie - coloboom - agenesie van corpus callosum-syndroom · Craniofaciale dysmorfie - coloboom - ontbrekende hersenbalk-syndroom · Syndroom van Temtamy-Shalash |
| pt | Síndrome Temtamy | Dismorfia craniofacial-coloboma-agenesia do corpo caloso · Síndrome Temtamy-Shalash |
| pl | Zespół Temtamy | Dysmorfia czaszkowo-twarzowa - coloboma - agnezja ciała modzelowatego · Zespół Temtamy i Shalash |
| cs | Temtamy syndrom | Syndrom zahrnující kraniofaciální dysmorfismus, kolobom a agenezi corpus callosum · Temtamyové-Shalashův syndrom · Temtamy-Shalashův syndrom |
| uk | Синдром Темтамі | Синдром черепно-лицевого дизморфізму-колобоми-генезису мозолистого тіла · Синдром Темтамі-Шалаша |
| zh | Temtamy综合征 | 颅面畸形-眼部缺损-胼胝体发育不全综合征 |
| tr | Temtamy sendromu | Temtamy-Shalash sendromu · Kraniyofasiyal dismorfizm-koloboma-korpus kallozum agenezisi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218340 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009033 | E | validated | |
| MeSH | C536959 | E | validated | |
| UMLS | C1857512 | E | validated | |
| GARD | 5688 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C12ORF57 | Disease-causing germline mutation(s) in | Assessed | HGNC:29521 | ENSG00000111678 | 615140 | 12p13.31 | chromosome 12 open reading frame 57 | 23453665[PMID]_23453666[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 56 cases | Worldwide | Case(s) | Validated | 24798461[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24798461[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001156 | Brachydactyly | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0001831 | Short toe | |
| Frequent (79-30%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0000280 | Coarse facial features | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000268 | Dolichocephaly | |
| HP:0002970 | Genu varum | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001763 | Pes planus | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000324 | Facial asymmetry | |
| HP:0001382 | Joint hypermobility | |
| HP:0000568 | Microphthalmia | |
| HP:0000506 | Telecanthus | |
| HP:0000179 | Thick lower lip vermilion | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1777
- This record as JSON: /data/d/1777.json