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skeletal dysplasia-intellectual disability syndrome

MeSH: C564101ORPHA: 1436

Contents

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

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 skeletal dysplasia-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

BrachydactylyAnal atresiaScoliosisFused cervical vertebraeShort statureAbnormal sacrum morphologyShort middle phalanx of fingerType II diabetes mellitusThoracic hemivertebrae

Classification & Codes

MeSH Code

C564101

Orphanet Code

ORPHA:1436
skeletal dysplasia-intellectual disability syndrome
MeSHC564101
OrphanetORPHA:1436
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
skeletal dysplasia-intellectual disability syndrome | OrphanDrug