Conditions / Genetic
Miura type epiphyseal chondrodysplasia
info · Genetic
A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
Signs and symptoms
- Increased urinary type 1 collagen N-terminal telopeptide level
- Arachnodactyly
- Tall stature
- Elevated alkaline phosphatase of bone origin
- Scoliosis
- Abnormal circulating beta-CTX concentration
- Broad hallux
- Osteopenia
- Long hallux
- Fifth finger distal phalanx clinodactyly
Also known as: ECDM; tall stature-scoliosis-macrodactyly of the great toes syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome