laryngo-onycho-cutaneous syndrome
Findings
No curated finding names laryngo-onycho-cutaneous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009513), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Corneal pterygiumHPOHP:0034363
- 6 of 6 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Hoarse cryHPOHP:0001615
- 6 of 6 reported patients · Neonatal onset
- Nail dystrophyHPOHP:0008404
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Skin ulcerHPOHP:0200042
- Very frequent (80% to 99% of cases)
- Subglottic stenosisHPOHP:0001607
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Exuberant granulation tissueHPOHP:6000956
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
- Hoarse voiceHPOHP:0001609
- Frequent (30% to 79% of cases)
- Inspiratory stridorHPOHP:0005348
- Frequent (30% to 79% of cases)
- MicrodontiaHPOHP:0000691
- Frequent (30% to 79% of cases)
- Oral mucosal blistersHPOHP:0200097
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAMA3HGNC:6483
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: laryngo-onycho-cutaneous syndrome
- Also called
- laryngeal and ocular granulation tissue in children from the Indian subcontinent syndromeLOC syndromelogic syndromeShabbir syndrome