Richards-Rundle syndrome
Findings
No curated finding names Richards-Rundle syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009493), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Distal amyotrophyHPOHP:0003693
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- KetonuriaHPOHP:0002919
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Occasional (5% to 29% of cases)
- Joint stiffnessHPOHP:0001387
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
Show the remaining 1
- Reduced bone mineral densityHPOHP:0004349
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Richards-Rundle syndrome
- Also called
- ketoaciduria-intellectual disability-ataxia-deafness syndrome