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Spondyloepimetaphyseal dysplasia, aggrecan type

MONDO:0013014

A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Also known as: SEMD, aggrecan type, spondyloepimetaphyseal dysplasia, aggrecan type, SEMDAG

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Osteochondrodysplasia (12) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1)

Not yet finished but already full! 1

New drug aims to help kids with rare genetic short stature grow taller

Disease control Ongoing

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

Phase 2 • Sponsor: Andrew Dauber • Aim: Disease control

Last updated Jun 27, 2026 11:03 UTC