Richards-Rundle syndrome
Synonyms: Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Richards-Rundle syndrome | Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome |
| fr | Syndrome de Richards-Rundle | Syndrome de cétoacidurie-déficience intellectuelle-ataxie-surdité |
| de | Richards-Rundle-Syndrom | Ketoazidose-Intelligenzminderung-Ataxie-Taubheit-Syndrom |
| es | Síndrome de Richards-Rundle | Síndrome de cetoaciduria-discapacidad intelectual-ataxia-hipoacusia · Síndrome de cetoaciduria-discapacidad intelectual-ataxia-sordera |
| it | Sindrome di Richards-Rundle | Aciduria chetonica - ritardo mentale - atassia - sordità · Sindrome chetoaciduria-disabilità intellettiva-atassia-sordità · Sindrome chetoaciduria-disabilità intellettiva-atassia-perdita dell'udito |
| nl | Syndroom van Richards-Rundle | Ketoacidurie - intellectuele achterstand - ataxie - doofheid-syndroom · Ketoacidurie - intellectuele achterstand - ataxie - gehoorverlies-syndroom |
| pt | Síndrome Richards-Rundle | Síndrome de cetoacidúria-perturbação do desenvolvimento intelectual-ataxia-perda auditiva · Síndrome de cetoacidúria-perturbação do desenvolvimento intelectual-ataxia-surdez |
| pl | Zespół Richardsa i Rundle'a | Ketoaciduria - niepełnosprawność intelektualna - ataksja - głuchota |
| cs | Richardsův-Rundleho syndrom | Syndrom zahrnující ketoacidurii, mentální retardaci, ataxii a hluchotu · Richards-Rundleho syndrom |
| uk | Синдром Річардса-Рандла | Синдром кетоацидурії - інтелектуальної недостатності - атаксії - глухоти · Синдром кетоацидурії - інтелектуальної недостатності - атаксії - втрати слуху |
| zh | Richards-Rundle综合征 | 酮症酸尿-智力障碍-共济失调-听力丧失综合征 |
| tr | Richards-Rundle sendromu | Ketoasidüri-zihinsel yetersizlik-ataksi-sağırlık sendromu · Ketoasidüri-zihinsel yetersizlik-ataksi-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245100 | E | validated | |
| ICD-10 | G60.2 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009493 | E | validated | |
| MeSH | C535674 | E | validated | |
| UMLS | C0796136 | E | validated | |
| GARD | 8423 | 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:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0000365 | Hearing impairment | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0001268 | Mental deterioration | |
| Frequent (79-30%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002919 | Ketonuria | |
| Occasional (29-5%) | ||
| HP:0000268 | Dolichocephaly | |
| HP:0001387 | Joint stiffness | |
| HP:0000639 | Nystagmus | |
| HP:0004349 | Reduced bone mineral density | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1399
- This record as JSON: /data/d/1399.json