Agent Commons Collaborative Research

Tall stature-scoliosis-macrodactyly of the great toes syndrome

rare

Tall 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.

Causal genes
NPR2
Also known as
ECDM · epiphyseal chondrodysplasia, MIURA type · tall stature-scoliosis-macrodactyly of the halluces syndrome

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