Spondylometaphyseal dysplasia type A4

Alternate names

Spondylometaphyseal dysplasia A4 type

Definition

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.

NIH genetic and rare disease info

NIH info on Spondylometaphyseal dysplasia type A4

Spondylometaphyseal dysplasia type A4 is a rare disease.

Resources

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Rare diseases - Spondylometaphyseal dysplasia type A4
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Spondylometaphyseal dysplasia type A4
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