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lipodystrophy-intellectual disability-deafness syndrome

MeSH: C564283ORPHA: 50811

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 lipodystrophy-intellectual disability-deafness syndrome, sourced from HPO and Orphanet clinical annotations.

Sensorineural hearing impairmentOsteopeniaIntellectual disabilityGlobal developmental delayFailure to thriveIntrauterine growth retardationSmall for gestational ageSlender buildShort statureSlender long bones with narrow diaphysesProgeroid facial appearanceGeneralized lipodystrophyDense metaphyseal bands

Classification & Codes

MeSH Code

C564283

Orphanet Code

ORPHA:50811
lipodystrophy-intellectual disability-deafness syndrome
MeSHC564283
OrphanetORPHA:50811
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO