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Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

MedGen UID:
99171
Concept ID:
C0472694
Neoplastic Process
Synonyms: Hemangiomas cavernous of face supraumbilical midline raphe; HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE; Raphe, supraumbilical midline, with cavernous facial hemangiomas; Sternal nonunion with supraumbilical raphe; Supraumbilical midabdominal raphe and facial cavernous hemangiomas
SNOMED CT: Cavernous hemangiomas of face and supraumbilical midline raphe (234140000)
 
Monarch Initiative: MONDO:0007706
OMIM®: 140850
Orphanet: ORPHA2124

Clinical features

From HPO
Cavernous hemangioma of the face
MedGen UID:
234097
Concept ID:
C1332863
Neoplastic Process
A cavernous hemangioma arising from the face.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Right aortic arch
MedGen UID:
48474
Concept ID:
C0035615
Congenital Abnormality
Aorta descends on right instead of on the left.
Sternal cleft
MedGen UID:
419096
Concept ID:
C2931507
Congenital Abnormality
The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.
Supraumbilical raphe
MedGen UID:
1615232
Concept ID:
C4539078
Anatomical Abnormality
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).

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