Spondyloepimetaphyseal dysplasia, aggrecan type
What is Spondyloepimetaphyseal dysplasia, aggrecan type?
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Other condition names
- SEMD, aggrecan type
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
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