Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

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Synonyms: Heide syndrome

A rare genetic disease characterized by mild intellectual disability osteoporosis delayed bone age macrocephaly with wormian bones and frontal bossing anomalies of fingers nails and teeth thoracic deformities hyperextensibility of joints as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.

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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Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome?

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Clinical Trials

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