Aphalangia means a baby is born without one or more phalanges, the small bones that make up the fingers and toes. It can involve one digit or several, and the ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Aphalangy-Syndactyly-Microcephaly (ASM) syndrome is an ultra-rare genetic condition that mainly affects the hands, feet, and head size. “Aphalangy” means some ...
Johnson–Munson syndrome is an extremely rare birth condition first described in two siblings, and later recognized as a triad of problems: (1) missing or very ...
Aphalangy–Hemivertebrae–Urogenital–Intestinal Dysgenesis (A/H/U/I dysgenesis)—also called Johnson–Munson syndrome is an extremely rare birth condition. It was ...
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare birth disorder. Children are born with missing or very small finger and ...
Type I acrocephalosyndactyly—better known as Apert syndrome—is a rare, inherited condition that affects how the skull, face, hands, and feet grow. In Apert ...
Aortic arch interruption means the main artery leaving the heart—the aorta—has a gap in the arch. The arch should be a smooth curve that carries blood from the ...
Aortic arch defects are birth (congenital) problems in the curved part of the main artery (the aorta) as it leaves the heart and travels toward the body. In a ...
Aortic arch anomaly–facial dysmorphism–intellectual disability syndrome is a very rare congenital (present at birth) condition that combines a right-sided ...
MYH11 familial thoracic aortic aneurysm and aortic dissection is an inherited condition that weakens the wall of the thoracic aorta (the big artery in your ...
Aortic aneurysm, familial thoracic 4 (TAAD4) is a specific, inherited form of disease that weakens the wall of the thoracic aorta (the large artery leaving the ...
Coarctation of the aorta means there is a narrowed segment in the body’s main artery (the aorta). Because the tube is tighter in one area, the heart must pump ...
Trapezoidocephaly-synostosis syndrome is a rare genetic condition that affects how a baby’s skull and bones grow before birth. In this condition, one or more ...
Antley-Bixler syndrome is a rare genetic condition that affects how the skull, face, arms, legs, and some internal organs form before birth. The skull bones ...
Anti-Jo-1 syndrome is an autoimmune condition. Your immune system makes a specific autoantibody called anti-Jo-1 that targets an enzyme in your cells ...
Antisynthetase syndrome (ASyS) is a rare autoimmune disease. Your immune system makes antibodies against enzymes called aminoacyl-tRNA synthetases. These ...
Hughes syndrome—also called antiphospholipid syndrome (APS)—is an autoimmune condition in which the body makes antibodies that mistakenly target proteins bound ...
Anti-neutrophil cytoplasmic antibody-associated vasculitis—shortened to AAV—is a group of rare autoimmune diseases where a person’s immune system makes ...
Anti-HLA hyperimmunization means a person’s immune system has made very high levels of antibodies against other people’s HLA proteins (human leukocyte ...
Goodpasture syndrome—also called anti-glomerular basement membrane (anti-GBM) disease—is a rare, fast-moving autoimmune disease. The immune system makes ...
