Autosomal recessive brachyolmia

Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.

Also known as: brachyolmia, Hobaek/Toledo type, brachyolmia, autosomal recessive

35 clinical trials for this condition and its sub-types.