Beemer-Ertbruggen syndrome
http://purl.obolibrary.org/obo/MONDO_0008857
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. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. [ Orphanet:1237 ]
Term info
- GARD:0000846 (MONDO:equivalentTo)
- Orphanet:1237 (OMIM:209970)
- SCTID:717859007 (MONDO:equivalentTo)
- OMIM:209970 (Orphanet:1237/e)
- MESH:C537668 (Orphanet:1237/e)
- UMLS:C1859526 (Orphanet:1237/e)
gard_rare, ordo_malformation_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. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.
http://linkedlifedata.com/resource/umls/id/C1859526, http://identifiers.org/mesh/C537668, http://purl.obolibrary.org/obo/Orphanet_1237, https://omim.org/entry/209970, http://identifiers.org/snomedct/717859007
lethal hydrocephalus-cardiac malformation-dense bones syndrome
peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome, Beemer Ertbruggen syndrome, hydrocephalus, Cardiac malformation, dense bones, etc., Beemer lethal malformation syndrome, hydrocephalus, cardiac malformation, dense bones, etc
MONDO:0008857
https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome