Congenital bilateral perisylvian syndrome, often linked to bilateral perisylvian polymicrogyria, is a rare brain development disorder present before birth. In ...

Congenital bilateral aplasia of vas deferens, also called congenital bilateral absence of the vas deferens, means a male is born without both vas deferens ...

Congenital bilateral agenesis of vas deferens, usually called CBAVD, means a man is born without both vas deferens. The vas deferens are the two tubes that ...

Congenital bilateral absence of vas deferens, often shortened to CBAVD, is a condition present from birth in which both vas deferens tubes do not develop ...

Congenital axonal neuropathy with encephalopathy is a very rare inherited nerve disease that starts at birth or very soon after birth. “Congenital” means ...

Congenital autosomal recessive small-platelet thrombocytopenia is a very rare inherited blood disorder. “Congenital” means a person is born with it. “Autosomal ...

Large intestinal atresia means a baby is born with a part of the large intestine closed, blocked, missing inside, or completely separated, so stool and gas ...

Colonic atresia is a rare birth condition in which part of the colon does not form as an open tube, so stool and gas cannot pass normally. A baby is usually ...

Atresia of the large intestine means a baby is born with part of the large bowel closed, missing, or not connected in the normal way. The large intestine is ...

Congenital atresia of colon means a baby is born with a part of the large intestine, also called the colon, closed, blocked, missing inside, or not joined in a ...

Congenital aortopulmonary septal defect is a very rare birth defect of the heart. It is also called an aortopulmonary window. In this condition, there is an ...

Congenital aortopulmonary artery fistula is a very rare heart blood vessel defect present from birth. In very simple words, it means there is an abnormal ...

Congenital aortopulmonary window is a rare heart defect present at birth. In this condition, there is an abnormal opening between the ascending aorta and the ...

Isolated congenital anosmia means a person is born with little or no sense of smell, and this problem is present from the start of life. The word isolated ...

Congenital anosmia means a person is born with no sense of smell. The smell loss is present from birth and usually lasts for life. In some people, it happens ...

Congenital analbuminemia is a very rare inherited disease in which the body makes almost no normal albumin, or makes an extremely tiny amount of it. Albumin is ...

Congenital amegakaryocytic thrombocytopenic purpura is more commonly called congenital amegakaryocytic thrombocytopenia, or CAMT. It is a very rare inherited ...

Amegakaryocytic thrombocytopenia is a rare blood disorder in which the bone marrow has very few or no megakaryocytes. Megakaryocytes are the large bone marrow ...

Congenital amegakaryocytic thrombocytopenia type 1 (CAMT-1) is a very rare inherited blood disease present from birth. In this condition the body cannot ...

Autoimmune thrombocytopenia–primary immunodeficiency syndrome means a person has very low platelets because the immune system is attacking their own platelets, ...