Autosomal recessive brachyolmia
Autosomal recessive brachyolmia
Definition
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, autosomal recessive, brachyolmia, Hobaek/Toledo type — per MONDO