brittle cornea syndrome

MONDO:0009242Mondo

Findings

No curated finding names brittle cornea syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Definition from the Mondo Disease Ontology (MONDO:0009242), read 2026-09-29. CC BY 4.0.

Features

47 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.

Blue scleraeHPOHP:0000592
- Very frequent (80% to 99% of cases)
Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
AstigmatismHPOHP:0000483
- Frequent (30% to 79% of cases)
Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
Corneal perforationHPOHP:0100583
- Frequent (30% to 79% of cases)
Decreased corneal thicknessHPOHP:0100689
- Frequent (30% to 79% of cases)
Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
High myopiaHPOHP:0011003
- Frequent (30% to 79% of cases)
Hyperextensible skinHPOHP:0000974
- Frequent (30% to 79% of cases)
KeratoconusHPOHP:0000563
- Frequent (30% to 79% of cases)
KeratoglobusHPOHP:0001119
- Frequent (30% to 79% of cases)

Show the remaining 35

Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Soft skinHPOHP:0000977
- Frequent (30% to 79% of cases)
Visual lossHPOHP:0000572
- Frequent (30% to 79% of cases)
Abnormal epiphysis morphologyHPOHP:0005930
- Occasional (5% to 29% of cases)
Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
ArachnodactylyHPOHP:0001166
- Occasional (5% to 29% of cases)

Genes

3 genes

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.

TMEM45AHGNC:25480
- Moderate · LiferaOmics · Autosomal recessive · 2026
HGNC:23216HGNC:23216
- Supportive · Orphanet · Autosomal recessive · 2021
PRDM5HGNC:9349
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: autosomal recessive disease
corneal disorder
Ehlers-Danlos syndrome
hereditary disorder of connective tissue
Narrower terms (2): brittle cornea syndrome 1
brittle cornea syndrome 2

Other names

2 names

Resolves to: brittle cornea syndrome

Also called: brittle cornea syndrome type 1kyphoscoliosis type