Additional Disease Briefs

NORD Summit 2026 Banner Ad




short-rib thoracic dysplasia 9 with or without polydactyly

Also known as: Conorenal syndrome, Mainzer Saldino syndrome, Mainzer-Saldino syndrome, SRTD9, Saldino-Mainzer syndrome, renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia, renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome, short-rib thoracic dysplasia 9 with or without polydactyly



Shwachman-Diamond syndrome 1

Also known as: SDS1, Shwachman-Bodian syndrome, Shwachman-Diamond syndrome, Shwachman-Diamond syndrome 1, lipomatosis of pancreas, congenital, pancreatic insufficiency and bone marrow dysfunction