Beemer-Ertbruggen syndrome

Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.



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

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0002002 Deep philtrum Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0011001 Increased bone mineral density Very frequent (99-80%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001334 Communicating hydrocephalus Frequent (79-30%)
HP:0001873 Thrombocytopenia Frequent (79-30%)


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