Anti-Jo-1 Syndrome
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 (histidyl-tRNA synthetase). This immune attack ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Antisynthetase Syndrome
Antisynthetase syndrome (ASyS) is a rare autoimmune disease. Your immune system makes antibodies against enzymes called aminoacyl-tRNA synthetases. These antibodies attack your own tissues and cause ...
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis (also called anterior segment dysgenesis/iridocorneal dysgenesis). This is a group of eye ...
Annular Epidermolytic Ichthyosis (AEI)
Annular epidermolytic ichthyosis (AEI) is a very rare, inherited skin condition. “Annular” means ring-shaped, “epidermolytic” means the top layer of skin is fragile and breaks down easily, and ...
Annular Atrophic Lichen Planus (AALP)
Annular atrophic lichen planus (AALP) is a very rare skin form of lichen planus where ring-shaped (annular) patches form with a thin, sunken center (atrophy) and a slightly raised, violaceous rim. It ...
Hay-Wells Syndrome
Hay-Wells syndrome is a rare, inherited condition that affects tissues that come from the ectoderm—the outer layer that forms our skin, hair, nails, teeth, sweat glands, eyes, and parts of the ear. ...
Ankyloblepharon Ectodermal Defects Cleft Lip/Palate (AEC) Syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome(Hay-Wells syndrome) is a rare genetic condition that affects parts of the body that grow from the outer layer in the embryo (the ...
Ankyloblepharon Filiforme Imperforate Anus Syndrome (AFIA)
Ankyloblepharon filiforme–imperforate anus syndrome (AFIA) is an extremely rare congenital (present at birth) malformation pattern in which a newborn has thin, stretchy tissue bands that tether the ...
Ankyloblepharon Filiforme Adnatum (AFA)
Ankyloblepharon filiforme adnatum (AFA) is a rare, congenital (present at birth) eyelid anomaly where the upper and lower eyelids are connected by one or more thin string-like tissue bands. These ...
Ankyloblepharon Filiforme Adnatum Cleft Palate Syndrome
Ankyloblepharon filiforme adnatum–cleft palate syndrome is a rare birth condition where a baby is born with thin strands of tissue that join the upper and lower eyelids (this is called ...
Sommer–Rathbun–Battles Syndrome
Sommer–Rathbun–Battles syndrome is an extremely rare condition first described in 1974 in two siblings. Doctors noticed three main things together: (1) eye changes with partial aniridia (the colored ...
Aniridia–Renal Agenesis Psychomotor Retardation (ARAP) Syndrome
Aniridia–Renal Agenesis Psychomotor Retardation (ARAP) Syndrome is an extremely rare condition reported in just two siblings in 1974. The triad included eye abnormalities (partial aniridia, ...
Aniridia–Ptosis–Intellectual Disability–Familial Obesity Syndrome
Aniridia–ptosis–intellectual disability–familial obesity syndrome is an extremely rare, inherited disorder reported in a single family (a mother and two children). It combines several eye findings ...
Gillespie Syndrome
Gillespie syndrome is a rare genetic condition. It mainly affects the eyes and the part of the brain that controls balance and coordination (the cerebellum). Children are often noticed to have large, ...
Aniridia–Cerebellar Ataxia–Intellectual Disability
Aniridia–cerebellar ataxia–intellectual disability is a very rare genetic neuro-eye syndrome. Children are usually born with partial aniridia (the colored part of the eye—the iris—is thin or partly ...
Aniridia–Cerebellar Ataxia–Intellectual Disability Syndrome
Aniridia–cerebellar ataxia–intellectual disability syndrome (often called Gillespie syndrome) is a very rare genetic condition. It combines three main features: a special partial aniridia (part of ...
Anhidrotic Ectodermal Dysplasia–Immunodeficiency–Osteopetrosis–Lymphedema (OL-EDA-ID) Syndrome
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome is a very rare, multi-system genetic disorder caused by faulty signaling in the NF-κB pathway—most often due to ...
Klippel-Trenaunay-Weber Syndrome
Klippel-Trénaunay syndrome (KTS) involves slow-flow capillary-venous-lymphatic malformations (no fast-flow arteriovenous shunts), while Parkes Weber syndrome has fast-flow arteriovenous fistulas and ...
Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome is a rare condition present at birth in which some blood vessels (tiny capillaries and larger veins) and sometimes lymph vessels do not form normally. This leads to three ...
Loeys-Dietz Syndrome Type 3
Loeys-Dietz syndrome type 3 is a genetic connective-tissue condition caused by a change (pathogenic variant) in a gene called SMAD3. Connective tissue is the body’s “scaffolding”—it helps arteries, ...
