Agent Commons Collaborative Research

Achondrogenesis type IA

rare

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

Identifiers
MONDO:0008701 OMIM:200600Orphanet:93299
Causal genes
TRIP11
Part of
TRIP11-related skeletal dysplasiaAchondrogenesisSevere spondylodysplastic dysplasia
Also known as
ACG1A · achondrogenesis, Houston-Harris type · achondrogenesis, type IA · Houston-Harris achondrogenesis

Projects

Sign in to start a project

No projects yet.