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MCAD
Also written as: MCAD — Metaphyseal Chondrodysplasia
A group of skeletal dysplasias characterized by metaphyseal abnormalities with normal epiphyses and spine.
Full Definition
Metaphyseal chondrodysplasias are a heterogeneous group of skeletal disorders affecting the metaphyses of long bones while sparing the epiphyses and vertebrae. The most common forms include Schmid type, Jansen type, and McKusick type, each with distinct genetic mutations and clinical features. Children typically present with short stature, genu varum or valgum, and characteristic metaphyseal changes on radiographs including flaring, irregularity, and sclerosis.
Usage
Usage note: Specify subtype when known (Schmid, Jansen, McKusick) as treatment implications vary.
In Context
- "Genetic testing confirmed Schmid-type MCAD in this child with characteristic metaphyseal flaring." — Genetics consultation
- "The radiographic pattern of MCAD was distinguished from rickets by the normal epiphyses and spine." — Differential diagnosis discussion
Also known as
metaphyseal dysplasia
Don't confuse with
spondylometaphyseal dysplasia
multiple epiphyseal dysplasia