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RHYNS syndrome

MeSH: C537612ORPHA: 140976

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia

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 RHYNS syndrome, sourced from HPO and Orphanet clinical annotations.

NephronophthisisPtosisRod-cone dystrophyAbnormality of the skeletal systemAbnormality of the liverHypopituitarismAbnormality of body heightMulticystic kidney dysplasiaHearing impairmentDeeply set eyeOsteopeniaHypoplastic iliaSkeletal dysplasiaDelayed skeletal maturationAbnormal acetabulum morphologyCranial nerve paralysisAbducens palsySmall epiphysesAbnormal long bone morphology

Classification & Codes

MeSH Code

C537612

Orphanet Code

ORPHA:140976
RHYNS syndrome
MeSHC537612
OrphanetORPHA:140976
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO