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primary non-essential cutis verticis gyrata - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary non-essential cutis verticis gyrata

MONDO:0018168

Overview

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: Cutis gyrata of scalp; and common findings: Abnormal forehead morphology, Developmental cataract, Seizure, and Global developmental delay and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Global developmental delay, Scarring in the brain (gliosis)

Prognosis

Phenotype severity distribution: 1 very common feature, 8 common features.

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 primary non-essential cutis verticis gyrata.

3 publications have been identified in PubMed for primary non-essential cutis verticis gyrata. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Shareef S (2026). [PMID: 30969634](https://pubmed.ncbi.nlm.nih.gov/30969634/). *Unknown Journal*. [Review / Meta-Analysis]
Devkota S (2025). [PMID: 40236312](https://pubmed.ncbi.nlm.nih.gov/40236312/). *Clin Case Rep*. [Case Report / Case Series]
Oberoi V (2024). [PMID: 39439635](https://pubmed.ncbi.nlm.nih.gov/39439635/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:357225

GARD

Genetic and Rare Diseases Info Center

GARD:21538

Questions for Your Care Team

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primary non-essential cutis verticis gyrata

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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