Brachyolmia, Maroteaux type
MONDO:0013360Autosomal 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
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