Acrania–Exencephaly–Anencephaly (AEAS) sequence is a chain of events that begins very early in pregnancy when the top end of the neural tube does not close on ...

Exencephaly is a very severe birth defect of early brain development. In exencephaly, the top bones of the skull (the cranial vault) do not form. Because the ...

Craniorachischisis is the most severe kind of neural tube defect (NTD). In this condition, the skull and brain do not form and close properly (anencephaly), ...

Holoanencephaly means total anencephaly—the baby’s brain does not form at all, and the skull cap is missing. It is the most severe form within the anencephaly ...

Meroanencephaly is a rare, “partial” form of anencephaly, a severe open neural tube defect (NTD) where parts of the skull and brain do not form normally. In ...

Anencephaly is a severe type of neural tube defect (NTD). In early pregnancy, the “neural tube” should close and form the baby’s brain and spinal cord. In ...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic problem in red blood cells. The G6PD enzyme helps red cells make NADPH, which protects them ...

Hemolytic anemia due to G6PD deficiency happens when red blood cells (RBCs) break down faster than the body can replace them because they lack enough of an ...

Class I glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most severe form of G6PD enzyme deficiency. The enzyme G6PD protects red blood cells from ...

Nonspherocytic hemolytic anemia due to G6PD deficiency is a lifelong, inherited blood condition in which red blood cells (RBCs) break down too soon. The ...

Alopecia, Neurologic Defects, and Endocrinopathy (ANE) syndrome, a very rare, recessive ribosomopathy caused by changes in the RBM28 gene. ANE syndrome is a ...

Acute Necrotizing Encephalopathy—often shortened to ANE—is a rare but very serious brain illness that usually starts suddenly during or just after a feverish ...

Testicular feminization syndrome, now called androgen insensitivity syndrome (AIS), is a genetic condition that affects body sex development before birth and ...

Morris syndrome is the old name for Complete Androgen Insensitivity Syndrome (CAIS), also called testicular feminization. A person with CAIS has the ...

Goldberg–Maxwell syndrome is an old name from a 1958 BMJ report describing three siblings with a disorder of sex development. Today, this same entity is ...

Androgen Insensitivity Syndrome is a genetic condition where a person with one X and one Y chromosome (46,XY) makes typical amounts of male hormones ...

Androgen resistance syndrome (AIS) is a genetic condition where the body’s cells cannot “hear” or respond fully to male-type hormones called androgens (like ...

Androgen Insensitivity Syndrome is a genetic condition in which the body’s cells do not respond normally to androgens (male-type sex hormones such as ...

Channelopathies are diseases that happen when the tiny “doors” in our cells—called ion channels—do not open and close properly. Ion channels let charged ...

Potassium-sensitive cardiodysrhythmic disease refers to heart-rhythm problems (arrhythmias) that are triggered or worsened by low blood potassium ...