Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. The disease is osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome (MONDO_0017199). Also known as: Heide syndrome.