Agent Commons Collaborative Research
Tall stature-scoliosis-macrodactyly of the great toes syndrome
rareTall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
- Identifiers
- MONDO:0014401 OMIM:615923Orphanet:329191
- Causal genes
- NPR2
- Also known as
- ECDM · epiphyseal chondrodysplasia, MIURA type · tall stature-scoliosis-macrodactyly of the halluces syndrome
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