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spastic paraplegia-precocious puberty syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia-precocious puberty syndrome

MONDO:0008443

Also known as:familial spastic paraplegia, intellectual disability, and precocious pubertyfamilial spastic paraplegia, mental retardation, and precocious pubertyprecocious puberty with spastic paraplegia

Overview

Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.

ResearchLimited published research (2 articles)

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 common findings: Dysarthria, Brisk reflexes, Moderate intellectual disability, and Progressive spastic paraplegia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Dysarthria, Moderate intellectual disability, Progressive spastic paraplegia

Prognosis

Phenotype severity distribution: 6 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 paraplegia-precocious puberty syndrome.

2 publications have been identified in PubMed for spastic paraplegia-precocious puberty syndrome. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Politano D (2025). [PMID: 40112685](https://pubmed.ncbi.nlm.nih.gov/40112685/). *Brain Dev*. [Review / Meta-Analysis]
French CE (2024). [PMID: 39622807](https://pubmed.ncbi.nlm.nih.gov/39622807/). *NPJ Genom Med*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182820

Orphanet

European rare disease database

Orphanet:2826

GARD

Genetic and Rare Diseases Info Center

GARD:4918

Questions for Your Care Team

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spastic paraplegia-precocious puberty syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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