Brittle cornea syndrome

Orpha code: 90354OMIM code: 614170

Definicja

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
Klasyfikacja

Disease

Synonimy
Ehlers-Danlos syndrome type 6B
Kod ORPHA
90354
Kod OMIM
614170
Kod ICD10
Q79.6
Kod ICD11
-

No additional description.

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