Schmid metaphyseal chondrodysplasia | |
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Other names | MCDS [1] |
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This condition is inherited in an autosomal dominant manner. | |
Specialty | Orthopedic |
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]
Unlike other " rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses. [5]
It is named for the German researcher F. Schmid, who characterized it in 1949. [6]
Schmid metaphyseal chondrodysplasia | |
---|---|
Other names | MCDS [1] |
![]() | |
This condition is inherited in an autosomal dominant manner. | |
Specialty | Orthopedic |
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]
Unlike other " rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses. [5]
It is named for the German researcher F. Schmid, who characterized it in 1949. [6]