Cardiospondylocarpofacial syndrome is a very rare genetic condition. It affects the heart (“cardio-”), the spine (“spondylo-”), the wrist and foot bones ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Cardiomyopathy-hypotonia-lactic acidosis syndrome (CHLAS) is a very rare mitochondrial disease pattern. Babies are often sick soon after birth or in early ...
Krasnow–Qazi syndrome is a very rare disorder in which the heart muscle becomes weak and enlarged, the lenses of the eyes become cloudy at a young age, and the ...
Cardiomyopathy-cataract-hip spine disease syndrome is defined by a triad: (1) dilated cardiomyopathy, (2) premature cataracts, and (3) degenerative disease of ...
Pfeiffer-Singer-Zschiesche syndrome—also called the Pfeiffer-type cardiocranial syndrome is an extremely rare genetic condition in which a baby has early ...
Cardiocranial syndrome, Pfeiffer type is an extremely rare condition in which three main problems occur together from birth: (1) some of the skull bones fuse ...
Cardiocranial syndrome, Pfeiffer type is an extremely rare genetic condition that affects the skull, face, heart, and overall growth and development. Fewer ...
FLNA-related X-linked myxomatous valvular dysplasia (XMVD) is a rare inherited heart condition caused by pathogenic variants in the FLNA (filamin-A) gene. The ...
FLNA-related x-linked cardiac valvular dysplasia (also called X-linked cardiac valvular dysplasia) is a rare inherited condition where one or more heart valves ...
MED13L-related intellectual disability syndrome (MED13L syndrome) is a rare, genetic brain-development condition caused by changes in a single gene called ...
Impaired intellectual development and distinctive facial features with or without cardiac defects is a genetic neurodevelopmental disorder. Children usually ...
Developmental Delay–Facial Dysmorphism Syndrome due to MED13L Deficiency ( MED13L Syndrome) is a genetic neurodevelopmental disorder. It mainly causes global ...
Carcinoid syndrome is a group of symptoms that happens when certain slow-growing neuroendocrine tumors (NETs) make and release hormones—most often ...
Carbamoyl phosphate synthetase deficiency is a rare, inherited problem of the urea cycle—the body’s system for removing extra ammonia, a waste made when we ...
NEMO deficiency syndrome is a rare, inherited immune system disorder caused by harmful changes (variants) in the IKBKG gene on the X chromosome. IKBKG makes a ...
Maeda syndrome is another name for CARASIL, a very rare inherited small-vessel disease of the brain. It damages the tiny arteries deep inside the brain, ...
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, inherited disease that damages the brain’s ...
CARASIL stands for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.It is a rare genetic small-vessel disease of the ...
Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a genetic condition that changes how some blood vessels grow and connect. People are born with ...
Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal Immunoglobulin M Protein, Cold Agglutinin and Disialosyl Antibody Syndrome is a rare, long-lasting, ...
