Additional Disease Briefs

NORD Summit 2026 Banner Ad



split-hand/foot malformation with long bone deficiency 1

Also known as: SHFLD, SHFLD1, aplasia of tibia with ectrodactyly, cleft hand absent tibia, cleft hand and absent tibia, ectrodactyly with aplasia of long bones, split-hand-foot malformation with long bone deficiency, split-hand/foot malformation with long bone deficiency, split-hand/foot malformation with long bone deficiency 1, tibial aplasia with split-hand-split-foot deformity, tibial aplasia with split-hand/split-foot deformity



SPOAN syndrome

Also known as: SPOAN, spastic paraplegia, optic atrophy, and neuropathy, spastic paraplegia, optic atropy, and neuropathy, spastic paraplegia, optic atropy, and neuropathy syndrome, spastic paraplegia-optic atrophy-neuropathy syndrome





spondylocarpotarsal synostosis syndrome

Also known as: SCT, Synspondylism, Synspondylism congenital, Synspondylism, congenital, congenital scoliosis with unilateral unsegmented bar, congenital synspondylism, scoliosis, congenital with unilateral unsegmented bar, scoliosis, congenital, with unilateral unsegmented Bar, spondylocarpotarsal syndrome, spondylocarpotarsal synostosis, spondylocarpotarsal synostosis syndrome, vertebral fusion with carpal coalition