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Richieri Costa-da Silva syndrome

MeSH: C535675ORPHA: 3101

Contents

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

Overview

human disease

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 Richieri Costa-da Silva syndrome, sourced from HPO and Orphanet clinical annotations.

Pectus carinatumProfound intellectual disabilityKyphoscoliosisShort statureGeneralized bone demineralizationIntermittent painful muscle spasmsHandgrip myotoniaMyotonia of the upper limbWeak voiceDysphagiaFallsSkeletal muscle hypertrophyDecreased anterioposterior diameter of lumbar vertebral bodiesVertebral wedgingDistal lower limb muscle weaknessEMG: myokymic dischargesEsotropiaHyporeflexiaAreflexiaMetatarsus adductusInability to walkGenu valgumDecreased muscle massBeaking of vertebral bodiesAsymmetric limb muscle stiffness

Classification & Codes

MeSH Code

C535675

Orphanet Code

ORPHA:3101
Richieri Costa-da Silva syndrome
MeSHC535675
OrphanetORPHA:3101
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO