LD24.4
category
Spondylometaphyseal dysplasias
Definition
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.
Also indexed as
Axial spondylometaphyseal dysplasiaMicromelic dwarfism, Fryns typeRoifman-Melamed syndromeSpondylometaphyseal dysplasia - bowed forearms - facial dysmorphismSpondylometaphyseal dysplasia - cone-rod dystrophySpondylometaphyseal dysplasia with combined immunodeficiencySpondylometaphyseal dysplasia with severe genu valgumSpondylometaphyseal dysplasia, 'corner fracture' typeSpondylometaphyseal dysplasia, A4 typeSpondylometaphyseal dysplasia, Golden typeSpondylometaphyseal dysplasia, Kozlowski typeSpondylometaphyseal dysplasia, Schmidt typeSpondylometaphyseal dysplasias
Nearby in Syndromes with skeletal anomalies as a major feature
LD24.0Syndromes with micromeliaLD24.1Bone diseases with increased bone densityLD24.2Bone diseases with disorganised development of skeletal componentsLD24.3Spondyloepiphyseal or spondyloepimetaphyseal dysplasiasLD24.5Spondylodysplastic dysplasiasLD24.6Multiple epiphyseal dysplasia or pseudoachondroplasiaLD24.7Multiple metaphyseal dysplasiasLD24.8Acromelic dysplasias