Achard Thiers Syndrome Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It is also known as diabetic-bearded woman syndrome Read More
Azorean Disease Azorean disease causes progressive degeneration of the central nervous system. Affected individuals experience deterioration in muscle coordination and other physical Read More
Giant Axonal Neuropathy Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural Read More
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
ACC (Aplasia Cutis Congenita) Aplasia cutis congenita (ACC) is a heterogenous group of disorders characterized by the absence of a portion of 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
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
Overview Amniotic Band Syndrome occurs when the unborn baby (fetus) becomes entangled in fibrous string-like amniotic bands in the womb, restricting blood flow 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
