label: osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
label_lc: osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
description: 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.