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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0000846 (MONDO:equivalentTo)
  • MESH:C537668 (Orphanet:1237)
  • UMLS:C1859526 (Orphanet:1237)
  • SCTID:717859007 (MONDO:equivalentTo)
  • ICD10:Q87.8 (Orphanet:1237)
  • Orphanet:1237 (OMIM:209970)
  • OMIM:209970 (Orphanet:1237)
Subsets

gard_rare, ordo_malformation_syndrome

definition

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.

exactMatch

http://identifiers.org/omim/209970

http://identifiers.org/mesh/C537668

http://linkedlifedata.com/resource/umls/id/C1859526

http://identifiers.org/snomedct/717859007

http://www.orpha.net/ORDO/Orphanet_1237

has exact synonym

lethal hydrocephalus-cardiac malformation-dense bones syndrome

has related synonym

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

id

MONDO:0008857

seeAlso

https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome