Cardiospondylocarpofacial syndrome is a very rare genetic condition. It affects the heart (“cardio-”), the spine (“spondylo-”), the wrist and foot bones ...

“Hypertrophic cardiomyopathy with hypotonia and lactic acidosis” describes a pattern of disease where (1) the heart muscle becomes abnormally thick ...

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 ...

Dilated cardiomyopathy from anthracyclines is a type of heart muscle weakness that can happen after receiving chemotherapy drugs such as doxorubicin, ...

Cardiomyopathy due to anthracyclines means heart muscle damage caused by cancer drugs in the anthracycline family (for example doxorubicin, daunorubicin, ...

Cardiofaciocutaneous syndrome is a rare genetic condition. It mainly affects the heart (cardio-), the face (facio-), and the skin and hair (cutaneous). ...

Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis doctors today usually group it under Pfeiffer-type ...

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 ...

Congenital valvular heart disease means one or more heart valves were formed abnormally before birth. The valve can be too tight (stenosis), too leaky ...

Myxomatous valvular dystrophy means the mitral valve’s leaflet tissue becomes stretchy and thick with extra “myxoid” (gel-like) material. The leaflets and ...

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 ...