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laryngo-onycho-cutaneous syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

laryngo-onycho-cutaneous syndrome

MONDO:0009513

Also known as:LOC syndromeShabbir syndromelaryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Overview

LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.

GeneticsAutosomal recessive · LAMA3 (chr 18)

OnsetNEONATAL

ResearchLimited published research (6 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 always present findings: Corneal pterygium, Enamel hypoplasia, Hoarse cry, and Nail dystrophy; and sometimes findings: Symblepharon. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Nail dystrophy, Skin ulcer

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LAMA3 encodes laminin subunit alpha 3 (3,333 aa). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext... Highest expression in Lung (30.0 TPM) and Uterus (28.4 TPM).

Laryngo-onycho-cutaneous syndrome is associated with mutations in the LAMA3 gene on chromosome 18.

LAMA3 is classified as a druggable target (Druggable Genome category) with score 1.4.

Diagnosis

Genetic testing for LAMA3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present 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 laryngo-onycho-cutaneous syndrome.

6 publications have been identified in PubMed for laryngo-onycho-cutaneous syndrome. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Ahmad N (2025). [PMID: 41250754](https://pubmed.ncbi.nlm.nih.gov/41250754/). *Respirology case reports*. [Case Report / Case Series]
Goldoni M (2025). [PMID: 39443834](https://pubmed.ncbi.nlm.nih.gov/39443834/). *Pediatric dermatology*. [Gene Therapy / Novel Therapeutics]
Chinchilli E (2025). [PMID: 41048069](https://pubmed.ncbi.nlm.nih.gov/41048069/). *Pediatric dermatology*. [Review / Meta-Analysis]
Suvarnakar A (2025). [PMID: 39420565](https://pubmed.ncbi.nlm.nih.gov/39420565/). *Clinical and experimental dermatology*. [Case Report / Case Series]
Iacoviello M (2025). [PMID: 40806473](https://pubmed.ncbi.nlm.nih.gov/40806473/). *International journal of molecular sciences*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:245660

Orphanet

European rare disease database

Orphanet:2407

GARD

Genetic and Rare Diseases Info Center

GARD:368

Questions for Your Care Team

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laryngo-onycho-cutaneous syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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