osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Findings
No curated finding names osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017199), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Reduced bone mineral densityMondoHP:0004349
Where it sits
- A kind of
Other names
1 name
Resolves to: osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
- Also called
- Heide syndrome