DiGeorge Syndrome

DiGeorges syndrom

Svensk definition

Ett medfött syndrom med avsaknad av tymus och bisköldkörtlarna, vilket leder till nedsatt cellulär immunitet. Immunglobulinnivåerna är normala.

Engelsk definition

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Svenska synonymer

22q11-deletionssyndrom — Velokardiofacialt syndrom — CATCH 22

Engelska synonymer

Syndrome, DiGeorge — DiGeorge Anomaly — DiGeorge Sequence — Familial Third and Fourth Pharyngeal Pouch Syndrome — Hypoplasia of Thymus and Parathyroids — Pharyngeal Pouch Syndrome — Third and Fourth Pharyngeal Pouch Syndrome — Thymic Aplasia Syndrome — Catch22 — Autosomal Dominant Opitz G-Bbb Syndrome — Autosomal Dominant Opitz G Bbb Syndrome — Velocardiofacial Syndrome — Syndrome, Velocardiofacial — 22q11.2 Deletion Syndrome — Deletion Syndrome, 22q11.2 — Sedlackova Syndrome — Syndrome, Sedlackova — Shprintzen Syndrome — Syndrome, Shprintzen — Shprintzen VCF Syndrome — VCF Syndrome — Syndrome, VCF — Velo-Cardio-Facial Syndrome — Syndrome, Velo-Cardio-Facial — Velo Cardio Facial Syndrome — Deletion 22q11.2 Syndrome — 22q11.2DS — Conotruncal Anomaly Face Syndrome — Conotruncal Anomaly Face Syndrome (CTAF)