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Table of Metaphyseal Chondrodysplasias
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Syndrome
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Genetics
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Characteristic
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Comments
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| Jansen's |
- autosomal dominant
- defect in parathyroid hormone related peptide (PTHRP)
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- mental retardation
- short limbed dwarfism
- wide eyes
- monkey like stance
.
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- ostebulbous metaphyseal expansion of long bones seen on xray
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| Schmid's |
- autosomal dominant
- defect in Type X collagen
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- short limbed dwarfism
- excessive lumbar lordosis
- trendelenburg gait
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- diagnosed when patient older due to coxa vara and genu varum
- often confused with Ricketts
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| McKusicks |
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- cartilage hair dysplasia (hair had small diameter)
- atlantoaxial instability
- ankle deformity due to fibular overgrowth
- immunologic deficiency and increased risk for malignancy
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- seen in Amish population in Finland
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