Autosomal recessive brachyolmia

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Autosomal recessive brachyolmia

Synonyms: Brachyolmia, Hobaek/Toledo type

Brachyolmia recessive type is a form of brachyolmia (see this term) 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Autosomal recessive brachyolmia?

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