Beemer-Ertbruggen syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYDROCEPHALUS, CARDIAC MALFORMATION, DENSE BONES, ETC. Hydrocephalus - cardiac malformation - dense bones |
| Number of Symptoms | 21 |
| OrphanetNr: | 1237 |
| OMIM Id: |
209970
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| ICD-10: |
Q87.8 |
| UMLs: |
C1859526 |
| MeSH: |
C537668 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000062) | Ambiguous genitalia | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0002002) | Deep philtrum | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | Frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(OMIM) | Bulbous | 1 / 7739 | ||||
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(HPO:0001334) | Communicating hydrocephalus | Frequent [Orphanet] | 32 / 7739 | |||
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(OMIM) | Cardiac malformation | 2 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(OMIM) | Dense bones | 2 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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