Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
split hand-foot malformation 4

Also known as: SHFM4, TP63 split hand-foot malformation, split hand-foot malformation caused by mutation in TP63, split hand-foot malformation type 4, split-hand/foot malformation 4, split-hand/foot malformation type 4

split hand-foot malformation 6

Also known as: SHFM6, WNT10B split hand-foot malformation, ectrodactyly, autosomal recessive, split hand-foot malformation caused by mutation in WNT10B, split hand-foot malformation type 6, split-hand/foot malformation 6, split-hand/foot malformation type 6

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

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