Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome?
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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