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fried syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fried syndrome

MONDO:0019428

Overview

A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

ResearchLimited published research (3 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 very common findings: Hydrocephalus, Low muscle tone (hypotonia), Global developmental delay, and Spastic diplegia and others; and common findings: High palate, Long face, Coarse facial features, and Short philtrum and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Hydrocephalus, Aggressive behavior, Autistic behavior

Prognosis

Phenotype severity distribution: 7 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 fried syndrome.

3 publications have been identified in PubMed for fried syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Liu H (2026). [PMID: 41610613](https://pubmed.ncbi.nlm.nih.gov/41610613/). *Poult Sci*. [Basic Science / Preclinical]
Khanna R (2025). [PMID: 40502890](https://pubmed.ncbi.nlm.nih.gov/40502890/). *Cureus*. [Case Report / Case Series]
Langsted A (2025). [PMID: 39919129](https://pubmed.ncbi.nlm.nih.gov/39919129/). *PLoS One*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:85335

GARD

Genetic and Rare Diseases Info Center

GARD:16753

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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fried syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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