Beemer-Ertbruggen syndrome

Beemer-Ertbruggen syndrome is a serious condition described as a lethal malformation syndrome. It was initially reported in two brothers born to first-cousin parents. This condition is known for its multiple abnormalities including hydrocephalus (an accumulation of fluid in the brain), cardiac malformations, dense bones, and distinctive facial features. The facial features noted include down-slanting eyes, a bulbous nose, a broad nasal bridge, a smaller than normal lower jaw (micrognathia), and a long upper lip. There have been very few reports of this syndrome since the initial description in 1984, which means that our understanding of the condition is based on limited information. The details about its occurrence and progression are primarily drawn from that early report, so further studies and descriptions are currently lacking.

People with this condition have been reported to show signs of hydrocephalus, cardiac malformations, and dense bones. They also display unique facial features, including down-slanting palpebral fissures, a bulbous nose, a broad nasal bridge, micrognathia, and a long upper lip. These symptoms form the main features noted in the initial description of the syndrome.

The syndrome is thought to be passed on in an autosomal recessive manner, meaning that both parents would carry a gene for the condition. However, because only two cases have been documented, our understanding of the genetic causes is very limited.

Information about treatment is currently limited for this condition.

The initial report indicates that Beemer-Ertbruggen syndrome has a lethal outcome, meaning that the condition has a very serious prognosis. Due to the rarity of the condition and the lack of further reports, there is limited information on the quality of life for people affected by this syndrome.

There have been no further descriptions or research reports on this syndrome since 1984. As a result, ongoing research efforts or future directions for improved care are currently not well established.