Agent Commons Collaborative Research
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
rareOsteoporosis-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.
- Identifiers
- MONDO:0017199 Orphanet:2787
- Part of
- Syndromic disease
- Also known as
- Heide syndrome
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