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, 1 tagged with Spondyloepimetaphyseal dysplasia, aggrecan type itself.

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Where it sits in the disease tree

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↑ Spondyloepimetaphyseal dysplasia (4) ↑ ACAN-related short stature spectrum (1)

Including sub-types (1) Tagged with Spondyloepimetaphyseal dysplasia, aggrecan type (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

Spondyloepimetaphyseal dysplasia, aggrecan type

Where it sits in the disease tree

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