Beemer Ertbruggen syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1237
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. There have been no further descriptions in the literature since 1984.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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| Communicating hydrocephalus |
| Psychotic mentation |
| Otosclerosis |
| Nystagmus |
| Increased bone mineral density |
| Ambiguous genitalia |
| Muscular hypotonia |
| Thrombocytopenia |
5%-29% of people have these symptoms.
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| Migraine |
| Broad face |
| Plantar crease between first and second toes |
| Hyperkinetic movements |
| Elevated serum creatinine |
| Cognitive impairment |
| Diplopia |
| Myokymia |
| Tinnitus |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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