Ataxia-deafness-intellectual disability syndrome
historical
Synonyms: Ataxia-hearing loss-intellectual disability syndrome · Reardon-Baraitser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-deafness-intellectual disability syndrome | Ataxia-hearing loss-intellectual disability syndrome · Reardon-Baraitser syndrome |
| fr | Syndrome d'ataxie-surdité-déficience intellectuelle | Syndrome de Reardon-Baraitser |
| de | Ataxie-Schwerhörigkeit-Intelligenzminderung-Syndrom | Ataxie-Hörverlust-Intelligenzminderung-Syndrom · Reardon-Baraitser-Syndrom |
| es | Síndrome de ataxia-sordera-discapacidad intelectual | Síndrome de Reardon-Baraitser · Síndrome de ataxia-hipoacusia-discapacidad intelectual |
| it | Sindrome atassia-sordità-disabilità cognitiva | Sindrome di Reardon-Baraitser |
| nl | Ataxie - doofheid - intellectuele achterstand-syndroom | Ataxie - gehoorverlies - intellectuele achterstand-syndroom · Syndroom van Reardon-Baraitser |
| pt | Síndrome de ataxia-surdez-perturbação do desenvolvimento intelectual | Síndrome Reardon-Baraitser · Síndrome de ataxia-perda auditiva-perturbação do desenvolvimento |
| pl | Zespół ataksji, głuchoty i niepełnosprawności intelektualnej | Zespół Reardona i Baraitsera |
| cs | Syndrom zahrnující ataxii, hluchotu a mentální retardaci | Reardonův-Baraitserův syndrom · Reardon-Baraitserův syndrom |
| uk | Синдром атаксії-глухоти-інтелектуальної недостатності | Синдром атаксії-втрати слуху-інтелектуальної недостатності · Синдром Ріардона-Барайзера |
| zh | 共济失调-耳聋-智力障碍综合征 | Reardon-Baraitser综合征 |
| tr | Ataksi-sağırlık-zihinsel yetersizlik sendromu | Ataksi-işitme kaybı-zihinsel yetersizlik sendromu · Reardon-Baraitser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208850 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008838 | E | validated | |
| UMLS | C4304023 | E | validated | |
| GARD | 4644 | 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 (5):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological 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 | 4728186[PMID]_3470627[PMID]_8411058[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4728186[PMID]_3470627[PMID]_8411058[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003457 | EMG abnormality | |
| HP:0001252 | Hypotonia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001382 | Joint hypermobility | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1188
- This record as JSON: /data/d/1188.json