Short stature-advanced bone age-early-onset osteoarthritis syndrome

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A rare primary bone dysplasia characterized by proportional short stature early cessation of bone growth accelerated skeletal maturation variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly frontal bossing midfacial hypoplasia flat nasal bridge brachydactyly broad thumbs and lordosis.

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 July 2024

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