OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is an extremely rare condition that has been described in medical literature but is now classified as 'obsolete' in disease databases, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct syndrome. The condition was originally described as involving a combination of osteoporosis (weakened, fragile bones), macrocephaly (an unusually large head), blindness or severe vision loss, and joint hyperlaxity (overly flexible or loose joints). These features together suggested a connective tissue or skeletal disorder affecting multiple body systems. Because this entry is obsolete, patients who were previously given this diagnosis may now fall under a different, updated diagnostic category. If you or a family member has been told you have this condition, it is important to work with a clinical geneticist to determine whether a more current diagnosis applies. Modern genetic testing may help clarify the underlying cause and guide treatment. Treatment for the individual symptoms — such as bone-strengthening medications for osteoporosis, vision support, and physical therapy for joint problems — may still be relevant regardless of the specific diagnostic label.

Bring these to your next appointment

• Q1.Since this diagnosis is now considered obsolete, is there a more current diagnosis that fits my symptoms?,Would whole exome or whole genome sequencing help identify the genetic cause?,What treatments are available to strengthen my bones and prevent fractures?,What can be done to preserve or support my remaining vision?,How should I manage joint hyperlaxity to prevent injuries?,Are there any clinical trials or research studies I might be eligible for?,What specialists should I be seeing regularly for ongoing care?

Common questions about OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

Related conditions

Other rare diseases commonly researched alongside OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome.

• Ehlers-Danlos syndrome→
• Hajdu-Cheney syndrome→
• Marfan syndrome→
• Osteogenesis imperfecta→
• Stickler syndrome→