Beemer-Ertbruggen syndrome

Rare Disease

MONDO:0008857

Also Known As

lethal hydrocephalus-cardiac malformation-dense bones syndromeBeemer Ertbruggen syndromeBeemer lethal malformation syndromehydrocephalus, Cardiac malformation, dense bones, etc.hydrocephalus, cardiac malformation, dense bones, etcpeculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome

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.