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macrocephaly-spastic paraplegia-dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macrocephaly-spastic paraplegia-dysmorphism syndrome

MONDO:0010858

Also known as:Fryns macrocephalymacrocephaly with spastic paraplegia and distinctive craniofacial appearance

Overview

Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.

Diagnosis

Biomarker and diagnostic research for macrocephaly-spastic paraplegia-dysmorphism syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 macrocephaly-spastic paraplegia-dysmorphism syndrome.

204 publications have been identified in PubMed for macrocephaly-spastic paraplegia-dysmorphism syndrome. Research spans Review / Meta-Analysis (53%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Research summaries	108	53%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600302

Orphanet

European rare disease database

Orphanet:2429

GARD

Genetic and Rare Diseases Info Center

GARD:16598

Questions for Your Care Team

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macrocephaly-spastic paraplegia-dysmorphism syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications