spondyloepimetaphyseal dysplasia, Sponastrime type

info · Genetic

A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.

Signs and symptoms

Disproportionate short-limb short stature
Metaphyseal irregularity
Platyspondyly
Metaphyseal striations
Intellectual disability
Biconcave vertebral bodies
Abnormality of the dentition
Limited elbow extension
Anteverted nares
Short nose

Also known as: Spondylar and nasal Alterations-Striated Metaphyses syndrome; sponastrime dysplasia