Arteriovenous malformations of the brain (brain AVMs) is an abnormal tangle of blood vessels inside the brain. In a healthy brain, blood flows from arteries → ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Arterial Tortuosity Syndrome (ATS) is a rare, inherited connective-tissue condition where many large and medium arteries become extra long and twisty ...
Occlusive infantile arteriopathy means a blocking or severe narrowing of brain arteries in babies and young children. “Occlusive” means the vessel is partly or ...
Infantile arteriosclerosis is an old name for a rare, often life-threatening condition in which a baby develops hard calcium deposits inside the walls of ...
Idiopathic obliterative arteriopathy (IOA) describes progressive narrowing (stenosis) or blockage (occlusion) of small- to medium-sized arteries caused by ...
Idiopathic infantile arterial calcification (IIAC) is a rare, serious genetic condition that appears before birth or in the first months of life. In this ...
Generalized arterial calcification of infancy (GACI) is a genetic disease in which calcium crystals build up in the elastic layers of arteries, often together ...
Arterial calcification of infancy is a very rare disease where the walls of a baby’s arteries (the tubes that carry blood from the heart to the body) become ...
Ventricular dysplasia is a heart-muscle disease in which parts of the ventricle (often the right ventricle, sometimes the left, or both) are replaced over time ...
Arrhythmogenic right ventricular dysplasia (ARVD)—today more often called arrhythmogenic right ventricular cardiomyopathy (ARVC)—is a heart-muscle disease that ...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart-muscle disease where the muscle of the right ventricle (the heart’s lower right chamber) is ...
Palmoplantar keratoderma with left-ventricular cardiomyopathy and woolly hair is a rare inherited disorder that affects the skin, hair, and heart. Babies are ...
Keratoderma with woolly hair type II is a rare inherited “cardio-cutaneous” syndrome. It affects the skin, hair, and heart. Babies are usually born with ...
Dilated cardiomyopathy with woolly hair and keratoderma is a rare inherited disorder that links three features: (1) a heart muscle disease where the main ...
Carvajal syndrome is a rare inherited condition that affects the heart, skin, and hair. It happens when a change (variant) in a gene called DSP (desmoplakin) ...
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma is a rare, inherited heart-and-skin condition. Babies typically have woolly, tightly curled hair ...
Arrhinia-Choanal Atresia-Microphthalmia Syndrome (BAMS) means a baby is born without the external nose or with a very tiny or flat nose (arhinia), the back of ...
Nose agenesis—also called congenital arhinia—means a baby is born without the external nose and usually without the normal nasal passages inside. Because ...
Hyporrhinia means a baby is born with part of the nose missing or very under-developed. Doctors sometimes call it partial arhinia. It happens during early face ...
Bosma arhinia microphthalmia syndrome (BAMS) is a very rare, genetic condition present from birth. The main features are: an absent or very under-developed ...
