ACD (Alveolar capillary dysplasia) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs 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
Froelich’s Syndrome? It is possible that the main title of the report Froelich’s Syndrome is not the name you expected. Please check the synonyms listing to Read More
Alobar Holoprosencephaly Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both 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
Acanthocytosis Acanthocytes (from the Greek word acantha, which means thorn), or spur cells, are spiculated red cells with a few projections of 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