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It occurs either as an isolated abnormality or in association with multiple syndromes: Silver's syndrome, Apert's syndrome, Nievergelt's syndrome, nail-patella syndrome, Klinefelter's syndrome, Cornelia de Lange syndrome, and arthrogryposis, among others.
The NIAMS is conducting an in-depth natural history study of people who have Marfan syndrome (which leads to abnormally long bones), nail-patella syndrome (a congenital skeletal disorder), Stickler syndrome (which causes eye and joint problems), and Ehlers-Danlos syndrome (which causes skin and blood vessel problems).
The same gene, LMX1B, is responsible for a rare inherited disease called nail-patella syndrome (NPS), which causes malformed fingernails, toenails, kneecaps, and elbows.