Kindler syndrome
Findings
No curated finding names Kindler syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Definition from the Mondo Disease Ontology (MONDO:0008260), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
52 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.
- Acral blisteringHPOHP:0031045
- 11 of 11 reported patients · Congenital onset
- Dermal atrophyHPOHP:0004334
- 11 of 11 reported patients
- PoikilodermaHPOHP:0001029
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Reduced epidermal kindlin-1 expressionHPOHP:6000714
- 3 of 3 reported patients
- Telangiectasia of the skinHPOHP:0100585
- 9 of 11 reported patients
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
Show the remaining 40
- Oral leukoplakiaHPOHP:0002745
- 8 of 11 reported patients
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Frequent (30% to 79% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- 5 of 11 reported patients
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.
- FERMT1HGNC:15889
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: Kindler syndrome
- Also called
- KSpoikiloderma of Kindler