Forney Syndrome
Forney syndrome—better known to geneticists as Cardiospondylocarpofacial (CSCF) syndrome is an extremely rare, inherited condition that affects the heart, spine, wrists/ankles (carpal–tarsal bones), ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Cardiospondylocarpofacial Syndrome
Cardiospondylocarpofacial syndrome is a very rare genetic condition. It affects the heart (“cardio-”), the spine (“spondylo-”), the wrist and foot bones (“carpo-” and “tarsal”), and the face ...
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome (CHLAS) is a very rare mitochondrial disease pattern. Babies are often sick soon after birth or in early infancy. The heart muscle is thick or weak ...
Krasnow–Qazi Syndrome
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 hips and spine wear out or are formed ...
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cardiomyopathy-cataract-hip spine disease syndrome is defined by a triad: (1) dilated cardiomyopathy, (2) premature cataracts, and (3) degenerative disease of the hips and spine (hip joint ...
Pfeiffer-Singer-Zschiesche Syndrome
Pfeiffer-Singer-Zschiesche syndrome—also called the Pfeiffer-type cardiocranial syndrome is an extremely rare genetic condition in which a baby has early fusion of skull sutures (sagittal ...
Craniosynostosis with Congenital Heart Disease and Intellectual Disability Syndrome
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 too early (craniosynostosis, usually the ...
Cardiocranial Syndrome, Pfeiffer Type
Cardiocranial syndrome, Pfeiffer type is an extremely rare genetic condition that affects the skull, face, heart, and overall growth and development. Fewer than ten people have been described in the ...
FLNA-Related X- Linked Myxomatous Valvular Dysplasia (XMVD)
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 gene change weakens the supporting ...
FLNA-Related X-Linked Cardiac Valvular Dysplasia
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 become abnormally thick, floppy, and ...
MED13L-Related Intellectual Disability Syndrome (MED13L Syndrome)
MED13L-related intellectual disability syndrome (MED13L syndrome) is a rare, genetic brain-development condition caused by changes in a single gene called MED13L. Children typically have global ...
Impaired Intellectual Development and Distinctive Facial Features with or without Cardiac Defects
Impaired intellectual development and distinctive facial features with or without cardiac defects is a genetic neurodevelopmental disorder. Children usually show global developmental delay in infancy ...
Developmental Delay–Facial Dysmorphism Syndrome due to MED13L Deficiency ( MED13L Syndrome)
Developmental Delay–Facial Dysmorphism Syndrome due to MED13L Deficiency ( MED13L Syndrome) is a genetic neurodevelopmental disorder. It mainly causes global developmental delay, intellectual ...
Carcinoid Syndrome
Carcinoid syndrome is a group of symptoms that happens when certain slow-growing neuroendocrine tumors (NETs) make and release hormones—most often serotonin—into your bloodstream. These chemicals ...
Carbamoyl Phosphate Synthetase Deficiency
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 break down protein. CPS1 is the first liver ...
NEMO Deficiency Syndrome
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 protein called NEMO (NF-κB Essential ...
Maeda Syndrome
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, leading to repeated small strokes (lacunar ...
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, inherited disease that damages the brain’s tiny blood vessels. It is caused by harmful ...
CARASIL Syndrome
CARASIL stands for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.It is a rare genetic small-vessel disease of the brain. It mainly damages tiny arteries ...
Capillary Malformation–Arteriovenous Malformation 1 (CM-AVM1)
Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a genetic condition that changes how some blood vessels grow and connect. People are born with it. Small red-pink skin marks ...
