Evans syndrome (ES) means a person has two or more immune-mediated low blood counts at the same time or one after the other—most often autoimmune hemolytic ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autoimmune hemolytic anemia (AIHA) is a blood disorder where your immune system mistakenly makes antibodies that stick to your own red blood cells. These ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Chronic mucocutaneous candidiasis (CMC) is a long-lasting tendency to get repeated or persistent Candida (yeast) infections of the mouth, throat, esophagus, ...
Immune-mediated protracted diarrhea of infancy means a baby has diarrhea that lasts for more than two weeks because the immune system is attacking or ...
Autoimmune encephalitis is brain inflammation caused by the body’s own immune system attacking healthy brain cells by mistake. “Autoimmune” means your immune ...
Gardner–Diamond syndrome is a very rare skin disorder in which painful, red and swollen patches suddenly appear and then turn into deep purple bruises ...
Autism spectrum disorder – epilepsy – arthrogryposis syndrome is a rare genetic condition. Children are born with tight or stiff joints (arthrogryposis), and ...
Auricular Abnormalities–Cleft Lip (with or without Cleft Palate)–Ocular Abnormalities Syndrome is a very rare birth condition in which a child has three main ...
Okamoto syndrome is a very rare genetic condition that affects how a child grows and develops. It is usually caused by a change (variant) in a single gene ...
Neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–hip dysplasia syndrome is a very rare, genetic, multi-system condition. Most babies show ...
Au–Kline syndrome (AKS) is a very rare, genetic condition that affects many body systems. Most people with AKS have weak muscle tone in infancy (hypotonia), ...
Atypical Progeroid Syndrome (APS) is a very rare genetic condition in which a person shows signs that resemble early aging (progeroid features) but does not ...
Atypical Werner syndrome (AWS) is a group of rare “progeroid” conditions that look like classic Werner syndrome—early graying, thin tight skin, short stature, ...
Atypical Rett syndrome (sometimes called a “variant” of Rett) is a neurodevelopmental condition in which a child—most often a girl—shows several hallmark Rett ...
Atypical Norrie disease due to monosomy Xp11.3 is a rare condition that happens when a small piece of the short arm of the X chromosome (region Xp11.3) is ...
Atypical Chediak–Higashi syndrome is the milder, later-onset end of a single disease caused by changes (pathogenic variants) in the LYST gene. In atypical CHS, ...
Attenuated Chédiak-Higashi syndrome (CHS) is a rare, inherited immune system and pigment disorder caused by harmful changes (mutations) in a gene called LYST. ...
Atrioventricular defect–blepharophimosis–radial and anal defect syndrome (AVB-RAD) is an extremely rare, inherited condition in which a child is born with a ...
An “incomplete atrioventricular canal defect with an isolated atrial component means there is a hole low in the wall between the top heart chambers (the ...
Atkin–Flaitz–Patil–Smith syndrome is an extremely rare, X-linked syndromic intellectual disability described in a single extended family in the medical ...
