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Marshall–Smith syndrome

MeSH: C536026ORPHA: 561

Contents

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

Overview

syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation

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 Marshall–Smith syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityRetrognathiaAnteverted naresProptosisThin skinIntellectual disabilityFailure to thriveSlender long boneAccelerated skeletal maturationBowing of the long bonesProminent foreheadOpen mouthHypertelorismConductive hearing impairmentBlue scleraeBruising susceptibilityGeneralized hirsutismScoliosisIncreased susceptibility to fracturesShort noseReduced bone mineral densityProtruding tongueGingival overgrowthChoanal atresiaOptic atrophyCerebellar hypoplasiaCraniosynostosisVentriculomegalyAbnormal cardiovascular system morphology

Classification & Codes

MeSH Code

C536026

Orphanet Code

ORPHA:561
Marshall–Smith syndrome
MeSHC536026
OrphanetORPHA:561
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO