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intellectual disability-myopathy-short stature-endocrine defect syndrome

MeSH: C535458ORPHA: 3068

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 intellectual disability-myopathy-short stature-endocrine defect syndrome, sourced from HPO and Orphanet clinical annotations.

Hypogonadotropic hypogonadismAbnormal palate morphologyHypertelorismDownslanted palpebral fissuresPtosisMyopiaOphthalmoparesisDisproportionate tall statureSparse body hairDelayed skeletal maturationSkeletal muscle atrophyHyperlordosisClinodactyly of the 5th fingerAbnormal muscle fiber morphologyShort statureCraniofacial hyperostosisHypoplasia of penisFacial palsySevere intellectual disabilityMicrocephalyProtruding earProminent nasal bridgeLimitation of joint mobilityAbnormal hip bone morphologyFacial asymmetryAbnormal pinna morphologyPectus carinatumAbnormal rib morphologyTracheoesophageal fistulaAbnormal cardiovascular system morphology

Classification & Codes

MeSH Code

C535458

Orphanet Code

ORPHA:3068
intellectual disability-myopathy-short stature-endocrine defect syndrome
MeSHC535458
OrphanetORPHA:3068
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO