Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Definition
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.
Also known as Heide syndrome — per MONDO