X-Linked Lymphoproliferative (XLP) Syndrome? X-linked lymphoproliferative syndrome (XLP), or Duncan’s syndrome, is a rare genetic condition where the immune system does not Read More
Congenital Afibrinogenemia Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to Read More
ACC (Aplasia Cutis Congenita) Aplasia cutis congenita (ACC) is a heterogenous group of disorders characterized by the absence of a portion of Read More
Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) When you have a severe combined immunodeficiency (SCID), your immune system can’t fight off even mild Read More
Acquired Lipodystrophy Lipodystrophy refers to the loss of adipose tissue. It is classified as either diffuse (generalized) or local (partial) and results Read More
General Discussion Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) Read More
What is Aase Syndrome? Aase Syndrome (or Aase-Smith Syndrome II) is a highly infrequent disorder. Individuals with this disorder show a variety Read More