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Items: 3

1.

Amniotic band syndrome

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. [from ORDO]

MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality
2.

Pentalogy of Cantrell

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. [from ORDO]

MedGen UID:
107540
Concept ID:
C0559483
Disease or Syndrome
3.

Ectopia cordis

Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. [from HPO]

MedGen UID:
41703
Concept ID:
C0013580
Congenital Abnormality
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