User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Carney–Stratakis Dyad
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Carney–Stratakis dyad is a rare, inherited condition in which a person can develop two types of tumors: (1) gastrointestinal stromal tumors (GIST), usually in ...

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Carney-Stratakis Syndrome
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Carney-Stratakis syndrome (also called the Carney-Stratakis dyad) is a hereditary condition in which a person can develop both gastrointestinal stromal tumors ...

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Carney Triad (CT)
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Carney triad (CT) is a rare condition in which a person develops a combination of three tumors over time: (1) gastrointestinal stromal tumors (GISTs)—usually ...

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Carney Complex–Trismus–Pseudocamptodactyly Syndrome (CCTPS)
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Carney complex–trismus–pseudocamptodactyly syndrome is a very rare, inherited “heart–hand” disorder. It blends two things: (1) the classic features of Carney ...

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Myxoma–Spotty Pigmentation–Endocrine Overactivity Syndrome
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“Myxoma–spotty pigmentation–endocrine overactivity syndrome” is the original descriptive name for Carney complex (CNC). It is a rare, inherited condition in ...

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LAMB (Lentigines, Atrial Myxoma, Blue Nevi) Syndrome
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LAMB (lentigines, atrial myxoma, blue nevi) syndrome is LAMB stands for lentigines (multiple small dark skin spots), atrial myxoma (a benign heart tumor), and ...

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Carney Complex (CNC)
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Carney complex (CNC) is a rare, inherited condition in which people develop small dark skin spots, tumors made of myxoid (gel-like) tissue, and several types ...

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Mitral Regurgitation-Hearing Loss-Skeletal Anomalies Syndrome
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Mitral regurgitation-hearing loss-skeletal anomalies syndrome is best known as Cardiospondylocarpofacial (CSCF) syndrome and has been reported under the ...

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Mitral Regurgitation with Deafness and Skeletal Anomalies Syndrome
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Mitral regurgitation with deafness and skeletal anomalies syndrome is a very rare genetic condition. It affects the heart valves (especially the mitral valve), ...

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Forney-Robinson-Pascoe Syndrome
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Forney-Robinson-Pascoe syndrome is a very rare genetic condition. It mainly affects the heart, the bones and joints (especially in the neck, hands, and feet), ...

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Forney Syndrome
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Forney syndrome—better known to geneticists as Cardiospondylocarpofacial (CSCF) syndrome is an extremely rare, inherited condition that affects the heart, ...

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

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

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Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
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Cardiomyopathy-hypotonia-lactic acidosis syndrome (CHLAS) is a very rare mitochondrial disease pattern. Babies are often sick soon after birth or in early ...

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Krasnow–Qazi Syndrome
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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 ...

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Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
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Cardiomyopathy-cataract-hip spine disease syndrome is defined by a triad: (1) dilated cardiomyopathy, (2) premature cataracts, and (3) degenerative disease of ...

User Articles: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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