Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died <i>in utero</i> or a few hours after birth. The mode of inheritance appears to be autosomal recessive.



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

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002757 Recurrent fractures Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000592 Blue sclerae Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001195 Single umbilical artery Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002269 Abnormality of neuronal migration Frequent (79-30%)
HP:0005474 Decreased calvarial ossification Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0004383 Hypoplastic left heart Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)


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