Spondylometaphyseal dysplasia, A4 type

Orpha code: 168555OMIM code: 609052

Definicja

Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.

Disease data
Klasyfikacja

Disease

Kod ORPHA
168555
Kod OMIM
609052
Kod ICD10
Q77.8
Kod ICD11
LD24.4

No additional description.

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