Brachyolmia, Maroteaux type

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, BCYM2

0 clinical trials for this condition and its sub-types, 0 tagged with Brachyolmia, Maroteaux type itself.