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Items: 2

1.

Twin-reversed arterial perfusion sequence

A rare disorder related to monochorionic twin pregnancy characterized by complete or partial absence of cardiac development in one twin (''''acardiac twin'''') and blood supply of both circulations by the morphologically normal co-twin (''''pump twin'''') via an arterioarterial anastomosis. In most cases, the acardiac twin has well developed legs and pelvis but no cephalic pole, thoracic organs, and upper extremities. The condition is associated with a high risk of perinatal death of the pump twin due to a combination of high-output cardiac failure and polyhydramnios-related pre-term birth. Hypoxia and intrauterine growth restriction are also seen in the pump twin. [from ORPHANET]

MedGen UID:
1842726
Concept ID:
C5575500
Disease or Syndrome
2.

TNF receptor-associated periodic fever syndrome (TRAPS)

Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by Drenth and van der Meer, 2001). [from OMIM]

MedGen UID:
226899
Concept ID:
C1275126
Disease or Syndrome

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