Brittle cornea syndrome

Orpha code: 90354OMIM code: 614170

Definition

A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Disease data
Classification

Disease

Synonyms
Ehlers-Danlos syndrome type 6B
ORPHA code
90354
OMIM code
614170
ICD10 code
Q79.6
ICD11 code
-

No additional description.

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