Antisynthetase syndrome (ASyS) is a rare autoimmune disease. Your immune system makes antibodies against enzymes called aminoacyl-tRNA synthetases. These ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis (also called anterior segment dysgenesis/iridocorneal ...
Annular epidermolytic ichthyosis (AEI) is a very rare, inherited skin condition. “Annular” means ring-shaped, “epidermolytic” means the top layer of skin is ...
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) ...
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, ...
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome(Hay-Wells syndrome) is a rare genetic condition that affects parts of the body that grow ...
Ankyloblepharon filiforme–imperforate anus syndrome (AFIA) is an extremely rare congenital (present at birth) malformation pattern in which a newborn has thin, ...
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 ...
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 ...
Sommer–Rathbun–Battles syndrome is an extremely rare condition first described in 1974 in two siblings. Doctors noticed three main things together: (1) eye ...
Aniridia–Renal Agenesis Psychomotor Retardation (ARAP) Syndrome is an extremely rare condition reported in just two siblings in 1974. The triad included eye ...
Aniridia–ptosis–intellectual disability–familial obesity syndrome is an extremely rare, inherited disorder reported in a single family (a mother and two ...
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). ...
Aniridia–cerebellar ataxia–intellectual disability is a very rare genetic neuro-eye syndrome. Children are usually born with partial aniridia (the colored part ...
Aniridia–cerebellar ataxia–intellectual disability syndrome (often called Gillespie syndrome) is a very rare genetic condition. It combines three main ...
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome is a very rare, multi-system genetic disorder caused by faulty signaling in ...
Klippel-Trénaunay syndrome (KTS) involves slow-flow capillary-venous-lymphatic malformations (no fast-flow arteriovenous shunts), while Parkes Weber 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 ...
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 ...
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 ...
