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keratosis follicularis-dwarfism-cerebral atrophy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratosis follicularis-dwarfism-cerebral atrophy syndrome

MONDO:0010638

Also known as:dwarfism, cerebral atrophy and generalised keratosis follicularisdwarfism, cerebral atrophy and generalized keratosis folliculariskeratosis follicularis dwarfism and cerebral atrophy

Overview

A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.

GeneticsX-linked

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: Severe short stature, Generalized keratosis follicularis, Absent eyebrow, and Absent eyelashes and 3 more.

Organ System	Phenotype Count	Example Features
Growth and development	1	Severe short stature
Head and neck

Prognosis

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 keratosis follicularis-dwarfism-cerebral atrophy syndrome.

2 publications have been identified in PubMed for keratosis follicularis-dwarfism-cerebral atrophy syndrome. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Ma HW (2025). [PMID: 40240022](https://pubmed.ncbi.nlm.nih.gov/40240022/). *Zhonghua Er Ke Za Zhi*. [Case Report / Case Series]
Azmatullah (2024). [PMID: 39416614](https://pubmed.ncbi.nlm.nih.gov/39416614/). *Pak J Med Sci*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:308830

Orphanet

European rare disease database

Orphanet:2339

GARD

Genetic and Rare Diseases Info Center

GARD:3099

Questions for Your Care Team

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keratosis follicularis-dwarfism-cerebral atrophy syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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