Beemer-Ertbruggen syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Beemer-Ertbruggen syndrome

Synonyms: Lethal hydrocephalus-cardiac malformation-dense bones 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. There have been no further descriptions in the literature since 1984.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

Newly diagnosed with
Beemer-Ertbruggen syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations


The mission is to provide free health care services, education, and training to the most vulnerable, poorest, and underserved.The vision is ever-increasing access to medical treatment, better education, and nutrition, especially for those unable to pay for the necessary products and services.This approach helps us transform the lives of millions of people and address data gaps on different issues,

Clinical Trials

For a list of clinical trials in this disease area, please click here.