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paraplegia-intellectual disability-hyperkeratosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paraplegia-intellectual disability-hyperkeratosis syndrome

MONDO:0010662

Also known as:Fitzsimmons-McLachlan-Gilbert syndromeintellectual disability with spastic paraplegia and palmoplantar hyperkeratosismental retardation with spastic paraplegia and palmoplantar hyperkeratosis

Overview

A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.

GeneticsX-linked

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Spastic paraplegia, Intellectual disability, Palmoplantar keratoderma, and Abnormal fingernail morphology and others; and common findings: Brisk reflexes, Sloping forehead, Micrognathia, and High forehead and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Mild intellectual disability, Spastic paraplegia, Intellectual disability

Diagnosis

Biomarker and diagnostic research for paraplegia-intellectual disability-hyperkeratosis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for paraplegia-intellectual disability-hyperkeratosis syndrome.

201 publications have been identified in PubMed for paraplegia-intellectual disability-hyperkeratosis syndrome. Kisho has analyzed 138 by research type. Research spans Review / Meta-Analysis (62%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Research summaries	85	62%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309560

Orphanet

European rare disease database

Orphanet:2824

GARD

Genetic and Rare Diseases Info Center

GARD:2344

Questions for Your Care Team

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Kisho

paraplegia-intellectual disability-hyperkeratosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

paraplegia-intellectual disability-hyperkeratosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications