Phenotypes associated with the disease cavernous hemangiomas of face-supraumbilical midline raphe syndrome (OMIM:140850):
- Bifid sternum (HP:0010309): The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. Evidence: PCS. (PMID:10826620)
- Supraumbilical raphe (HP:0410276): An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). Evidence: PCS. (PMID:10826620)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. (PMID:10826620)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. (PMID:10826620)
- Cavernous hemangioma of the face (HP:0007486). Evidence: IEA. (OMIM:140850)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:140850)