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