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LD24.4 Spondylometaphyseal dysplasias

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. The disorders are characterised by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.

synonyms

• Spondylometaphyseal dysplasias
• Spondylometaphyseal dysplasia, Kozlowski type
• Spondylometaphyseal dysplasia, 'corner fracture' type
• Spondylometaphyseal dysplasia, Schmidt type
• Spondylometaphyseal dysplasia with severe genu valgum
• Spondylometaphyseal dysplasia - cone-rod dystrophy
• Axial spondylometaphyseal dysplasia
• Spondylometaphyseal dysplasia, Golden type
• Spondylometaphyseal dysplasia with combined immunodeficiency
• Roifman-Melamed syndrome
• Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
• Spondylometaphyseal dysplasia, A4 type
• Micromelic dwarfism, Fryns type

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