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aplasia cutis-myopia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aplasia cutis-myopia syndrome

MONDO:0010988

Also known as:Gershoni-Baruch-Leibo syndromeaplasia cutis myopiaaplasia cutis congenita, high myopia, and cone-rod dysfunction

Overview

Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.

GeneticsAutosomal recessive

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: Congenital nystagmus, High myopia, and Aplasia cutis congenita of midline scalp vertex.

Organ System	Phenotype Count	Example Features
Eyes	1	Congenital nystagmus
Pregnancy and birth

Diagnosis

Biomarker and diagnostic research for aplasia cutis-myopia syndrome has been reported in the published literature.

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 aplasia cutis-myopia syndrome.

286 publications have been identified in PubMed for aplasia cutis-myopia syndrome. Kisho has analyzed 87 by research type. Research spans Review / Meta-Analysis (69%), Case Report / Case Series (17%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Research summaries	60	69%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601075

Orphanet

European rare disease database

Orphanet:1117

GARD

Genetic and Rare Diseases Info Center

GARD:756

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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aplasia cutis-myopia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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Recent Publications

aplasia cutis-myopia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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