Microcephaly-thin corpus callosum-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-thin corpus callosum-intellectual disability syndrome | |
| fr | Syndrome de microcéphalie-corps calleux fin-déficience intellectuelle | |
| de | Mikrozephalie-dünnes Corpus callosum-Intelligenzminderung-Syndrom | |
| es | Síndrome de microcefalia-adelgazamiento del cuerpo calloso-discapacidad intelectual | |
| it | Sindrome microcefalia-corpo calloso sottile-disabilità intellettiva | |
| nl | Microcefalie - dun corpus callosum - intellectuele achterstand-syndroom | |
| pt | Síndrome de microcefalia-corpo caloso estreito-perturbação do desenvolvimento intelectual | |
| pl | Zespół małogłowie-ścieńczenie ciała modzelowatego-niepełnosprawność intelektualna | |
| cs | Syndrom zahrnující mikrocefalii, tenké corpus callosum a mentální retardaci | |
| uk | Синдром мікроцефалії-тонкого мозолистого тіла-інтелектуальної недостатності | |
| zh | 小头薄胼胝体智力障碍综合征 | |
| tr | Mikrosefali-ince korpus kallozum-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615599 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014273 | E | validated | |
| UMLS | C4749429 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TAF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11536 | ENSG00000064313 | 604912 | 8q24.12 | TATA-box binding protein associated factor 2 | 24084144[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24084144[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24084144[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
18 annotations · validated 2019-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001344 | Absent speech | |
| HP:0003487 | Babinski sign | |
| HP:0012448 | Delayed myelination | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0002465 | Poor speech | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000577 | Exotropia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000238 | Hydrocephalus | |
Annotation source: 24084144[PMID]_22633631[PMID]_21937992[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397951
- This record as JSON: /data/d/397951.json