Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.
This condition has no sub-types.