Wyburn-Mason syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CAMS 2 Cerebrofacial arteriovenous metameric syndrome type 2 Bonnet-Dechaume-Blanc syndrome |
| Number of Symptoms | 24 |
| OrphanetNr: | 53719 |
| OMIM Id: |
|
| ICD-10: |
Q28.2 |
| UMLs: |
C0265321 |
| MeSH: |
C536752 |
| MedDRA: |
10048661 |
| Snomed: |
6729006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebrofacial arteriovenous metameric syndrome
-Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare neurologic disease Palpebral tumor with a vascular malformation -Rare eye disease -Rare genetic disease Skin vascular disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0000606) | Abnormality of the periorbital region | Occasional [Orphanet] | 96 / 7739 | |||
|
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(HPO:0000520) | Proptosis | Occasional [Orphanet] | 192 / 7739 | |||
|
|
(HPO:0000271) | Abnormality of the face | Frequent [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000496) | Abnormality of eye movement | Occasional [Orphanet] | 79 / 7739 | |||
|
|
(HPO:0008046) | Abnormality of the retinal vasculature | Very frequent [Orphanet] | 41 / 7739 | |||
|
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
|
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(HPO:0000360) | Tinnitus | Occasional [Orphanet] | 29 / 7739 | |||
|
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0002315) | Headache | Frequent [Orphanet] | 175 / 7739 | |||
|
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
|
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(HPO:0100021) | Cerebral palsy | Frequent [Orphanet] | 36 / 7739 | |||
|
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
|
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(HPO:0001287) | Meningitis | Occasional [Orphanet] | 46 / 7739 | |||
|
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(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
|
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(HPO:0004372) | Reduced consciousness/confusion | Occasional [Orphanet] | 73 / 7739 | |||
|
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(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
|
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
|
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(HPO:0100026) | Arteriovenous malformation | Very frequent [Orphanet] | 38 / 7739 | |||
|
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(HPO:0002170) | Intracranial hemorrhage | Occasional [Orphanet] | 40 / 7739 | |||
|
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(HPO:0002617) | Aneurysm | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0100784) | Peripheral arteriovenous fistula | Very frequent [Orphanet] | 9 / 7739 | |||
|
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|