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Spondylometaphyseal dysplasia, A4 type

What is Spondylometaphyseal dysplasia, A4 type?

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.

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.