Cavernous hemangiomas of face - supraumbilical midline raphe
General Information (adopted from Orphanet):
| Synonyms, Signs: |
STERNAL NONUNION WITH SUPRAUMBILICAL RAPHE RAPHE, SUPRAUMBILICAL MIDLINE, WITH CAVERNOUS FACIAL HEMANGIOMAS |
| Number of Symptoms | 10 |
| OrphanetNr: | 2124 |
| OMIM Id: |
140850
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| ICD-10: |
D18.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
234140000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation syndrome with skin/mucosae involvement
-Rare developmental defect during embryogenesis -Rare genetic disease Vascular tumor -Rare circulatory system disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0004404) | Abnormality of the nipple | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0001048) | Cavernous hemangioma | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0007486) | Cavernous hemangioma of the face | 2 / 7739 | ||||
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(OMIM) | Whitish or healing groove between umbilicus and xiphoid | 1 / 7739 | ||||
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(OMIM) | Cavernous hemangiomas, face | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Supraumbilical raphe | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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