Paraplegia-intellectual disability-hyperkeratosis syndrome

Orpha code: 2824OMIM code: 309560

Definition

A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.

Disease data
Classification

Malformation syndrome

Synonyms
Fitzsimmons-McLachlan-Gilbert syndrome
Zespół Fitzsimmonsa, McLachlan i Gilberta
ORPHA code
2824
OMIM code
309560
ICD10 code
G82.1
ICD11 code
-

No additional description.

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