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spastic paraparesis-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraparesis-deafness syndrome

MONDO:0010732

Also known as:Wells-Jankovic syndromefamilial spastic paraparesis and deafnessspastic paraparesis - deafness

Overview

Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.

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 paraparesis, Inner ear hearing loss (sensorineural hearing impairment), Difficulty walking (gait disturbance), and Overactive reflexes (hyperreflexia) and others; and common findings: Short stature, Cataract, Hypogonadism, and Visual impairment and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Tremor, Spastic paraparesis, Ataxia

Diagnosis

Biomarker and diagnostic research for spastic paraparesis-deafness syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 very common features, 5 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 spastic paraparesis-deafness syndrome.

203 publications have been identified in PubMed for spastic paraparesis-deafness syndrome. Kisho has analyzed 36 by research type. Research spans Review / Meta-Analysis (44%), Basic Science / Preclinical (25%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Research summaries	16	44%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:312910

Orphanet

European rare disease database

Orphanet:2815

GARD

Genetic and Rare Diseases Info Center

GARD:5555

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

spastic paraparesis-deafness 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

Latest News & Developments

Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report.

spastic paraparesis-deafness 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

Latest News & Developments

Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report.