Brachyolmia, Maroteaux type
Brachyolmia, Maroteaux type
Definition
Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.
Also known as brachyolmia type 2, brachyolmia, Maroteaux type — per MONDO