Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised 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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000618 Blindness Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002645 Wormian bones Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID