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Stüve-Wiedemann syndrome

MeSH: C537502ORPHA: 3206

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 Stüve-Wiedemann syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the eyeAbnormality of visionThickened cortex of long bonesAbnormal metaphysis morphologyHypohidrosisHyperhidrosisRecurrent feverSkeletal dysplasiaMicromeliaMetaphyseal wideningAbnormal cortical bone morphologyParesthesiaShort statureBowing of the long bonesFeeding difficulties in infancyAbnormal autonomic nervous system physiologyCamptodactyly of fingerTrismusLacrimation abnormalityOsteopeniaOsteoporosisFlexion contractureLimitation of joint mobilityIntrauterine growth retardationOligohydramniosTalipes equinovarusRespiratory distressAsthmaApneaScoliosisRecurrent fracturesGenu valgumElbow flexion contractureKnee flexion contractureImpaired pain sensationSmooth tongueFlexion contracture of fingerAbnormality of the dentitionHypothyroidismSacral dimpleHypotoniaAbsent patellar reflexesDecreased corneal reflexEctopic thyroid

Classification & Codes

MeSH Code

C537502

Orphanet Code

ORPHA:3206
Stüve-Wiedemann syndrome
MeSHC537502
OrphanetORPHA:3206
Treatments0 drug(s)
Symptoms on record44 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO