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lissencephaly type 3-metacarpal bone dysplasia syndrome

MeSH: C563383ORPHA: 86822

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 lissencephaly type 3-metacarpal bone dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.

Intrauterine growth retardationPolyhydramniosMicrocephalyFacial edemaPachygyriaCerebellar hypoplasiaPartial agenesis of the corpus callosumLissencephalyTalipes equinovarusPulmonary hypoplasiaAbnormal basal ganglia morphologyHypoplasia of the brainstemArthrogryposis multiplex congenitaAbnormal bone structureDiffuse axonal swellingAtrophy of the spinal cordCerebral hypoplasiaNeuronal loss in the cerebral cortexAbnormal cartilage matrixShort distal phalanx of fingerShort metacarpalEpiphyseal stipplingSmall basal ganglia

Classification & Codes

MeSH Code

C563383

Orphanet Code

ORPHA:86822
lissencephaly type 3-metacarpal bone dysplasia syndrome
MeSHC563383
OrphanetORPHA:86822
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
lissencephaly type 3-metacarpal bone dysplasia syndrome | OrphanDrug