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Simpson-Golabi-Behmel syndrome

ICD-10: Q87.0MeSH: C537340ORPHA: 2432

Contents

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

Overview

X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

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 Simpson-Golabi-Behmel syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal cranial suture/fontanelle morphologyBroad foreheadMicrocorneaMicrophthalmiaLarge for gestational ageRecurrent respiratory infectionsHepatomegalyRespiratory insufficiencyAbnormal calvaria morphologyCorneal opacityMedian cleft palatePtosisCraniosynostosisHypotelorismGlossoptosis

Classification & Codes

ICD-10 Code

Q87.0

MeSH Code

C537340

Orphanet Code

ORPHA:2432
Simpson-Golabi-Behmel syndrome
ICD-10Q87.0
MeSHC537340
OrphanetORPHA:2432
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO