Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Synonyms: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome |
| fr | Syndrome de déficiences motrice et intellectuelle sévères-surdité neurosensorielle-dystonie | |
| de | Schwere motorische und intellektuelle Beeinträchtigung-sensorinsorineurale Schwerhörigkeit-Dystonie-Syndrom | |
| es | Síndrome de discapacidad motora e intelectual grave-sordera neurosensorial-distonía | Síndrome de discapacidad motora e intelectual grave-hipoacusia neurosensorial-distonía |
| it | Sindrome da disabilità motoria ed intellettiva grave, sordità neurosensoriale e distonia | |
| nl | Ernstige motorische en intellectuele achterstand - sensorineurale doofheid - dystonie-syndroom | Ernstige motorische en intellectuele achterstand - sensorineuraal gehoorverlies - dystonie-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual e motor grave-surdez neurossensorial-distonia | |
| pl | Zespół ciężka niepełnosprawność ruchowa i intelektualna-głuchota czuciowo-nerowa-dystonia | = en |
| cs | Syndrom zahrnující těžkou mentální retardaci, poruchu motoriky, senzorineurální hluchotu a dystonii | = en |
| uk | Синдром тяжких рухових та інтелектуальних порушень-сенсоневральної глухоти-дистонії | Синдром тяжких рухових та інтелектуальних порушень- сенсоневральної туговухості - дистонії |
| zh | 重型运动及智力障碍-感音神经性聋-肌张力障碍综合征 | 严重运动和智力障碍-感音神经性听力损失-肌张力障碍综合征 |
| tr | Ağır motor ve zihinsel yetersizlik-sensörinöral sağırlık-distoni sendromu | Ağır motor ve zihinsel yetersizlik-sensörinöral işitme kayıp-distoni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300475 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010334 | E | validated | |
| UMLS | C4749456 | 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 (4):
- 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:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCAP31 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16695 | ENSG00000185825 | 300398 | Xq28 | B cell receptor associated protein 31 | 24011989[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24011989[PMID] | |
| 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
20 annotations · validated 2018-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001508 | Failure to thrive | |
| HP:0000365 | Hearing impairment | |
| Frequent (79-30%) | ||
| HP:0006808 | Cerebral hypomyelination | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001954 | Recurrent fever | |
| HP:0000486 | Strabismus | |
| HP:0002445 | Tetraplegia | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000718 | Aggressive behavior | |
| HP:0012444 | Brain atrophy | |
| HP:0003429 | CNS hypomyelination | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0000752 | Hyperactivity | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24011989[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369939
- This record as JSON: /data/d/369939.json