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paraplegia-intellectual disability-hyperkeratosis syndrome

MeSH: C537058ORPHA: 2824

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 paraplegia-intellectual disability-hyperkeratosis syndrome, sourced from HPO and Orphanet clinical annotations.

Palmoplantar keratodermaAbnormal fingernail morphologyIntellectual disabilitySpasticitySpastic paraplegiaLower limb spasticityLong noseCone-shaped epiphysisMalar prominenceSloping foreheadMicrognathiaHigh foreheadBrachydactylyArachnodactylyHyperreflexiaBrisk reflexesSparse scalp hairAstigmatismPtosisNystagmusJoint hypermobility

Classification & Codes

MeSH Code

C537058

Orphanet Code

ORPHA:2824
paraplegia-intellectual disability-hyperkeratosis syndrome
MeSHC537058
OrphanetORPHA:2824
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO