Autosomal recessive brachyolmia

MONDO:0018662

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

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