Richards-Rundle syndrome
MeSH: C535674ORPHA: 1399
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Richards-Rundle syndrome, sourced from HPO and Orphanet clinical annotations.
DolichocephalyHearing impairmentNystagmusHypergonadotropic hypogonadismAtaxiaMental deteriorationHypertoniaGait disturbanceHyperreflexiaJoint stiffnessKetonuriaDistal amyotrophyReduced bone mineral density
Classification & Codes
MeSH Code
C535674Orphanet Code
ORPHA:1399Richards-Rundle syndrome
| MeSH | C535674 |
| Orphanet | ORPHA:1399 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO