X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome

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A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints progressive stiffness of the shoulders and neck keloid scarring increased optic cup-to-disc ratio and renal stones. Additional reported features include arthritis osteoporosis hypoplastic flexion creases clinodactyly anxiety and facial dysmorphism (such as sloping forehead prominent supraorbital ridges downslanting palpebral fissures prominent ears and high arched palate). Female carriers exhibit a variable milder phenotype.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome?

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