User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Caudal Appendage-Deafness Syndrome
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Caudal appendage-deafness syndrome is an extremely rare genetic condition. It is a birth defect (congenital syndrome) where a baby is born with a “caudal ...

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Cathepsin A-related Arteriopathy-Strokes-Leukoencephalopathy (CARASAL)
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Cathepsin A-related arteriopathy-strokes-leukoencephalopathy (CARASAL) is a very rare inherited brain blood-vessel disease. It mainly affects the tiny arteries ...

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Pierre Robin Sequence–Hyperphalangy–Clinodactyly Syndrome
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Pierre Robin sequence–hyperphalangy–clinodactyly syndrome is better known in medical books as Catel–Manzke syndrome. It is a very rare genetic condition. In ...

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Palatodigital Syndrome, Catel-ManzkeType
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Palatodigital syndrome, Catel-Manzke type (usually called Catel-Manzke syndrome) is a very rare genetic bone and face condition that starts before birth. It ...

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Micrognathia Digital Syndrome
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Micrognathia digital syndrome is another name for Catel-Manzke syndrome, a very rare genetic disease. It is mainly defined by two key problems: a very small ...

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Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome
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Hyperphalangy-clinodactyly of the index finger with Pierre Robin syndrome is the long, technical name for a very rare birth condition also called Catel-Manzke ...

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Catel-Manzke Syndrome
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Catel-Manzke syndrome is a very rare genetic bone and craniofacial condition. It is mainly defined by two things that appear together: a special deformity of ...

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Multifocal Ventricular Premature Heart Beats
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Multifocal ventricular premature beats are extra heartbeats that start too early in the lower chambers of the heart (the ventricles) and come from more than ...

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Malignant Paroxysmal Ventricular Tachycardia
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Malignant paroxysmal ventricular tachycardia (VT) is a very dangerous type of fast heart rhythm that starts in the lower chambers of the heart, called the ...

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Double Tachycardia Induced by Catecholamines
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Double tachycardia induced by catecholamines is an old name for a rare heart rhythm disease now called catecholaminergic polymorphic ventricular tachycardia ...

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Bidirectional Tachycardia Induced by Catecholamine
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Bidirectional tachycardia induced by catecholamine is a special type of dangerous fast heart rhythm that usually means a person has catecholaminergic ...

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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
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Catecholaminergic polymorphic ventricular tachycardia, usually called CPVT, is a rare inherited heart rhythm problem. It causes very fast and dangerous ...

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Asherson’s Syndrome
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Asherson’s syndrome is another name for catastrophic antiphospholipid syndrome (CAPS). It is a very rare, extreme and fast-moving form of antiphospholipid ...

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Catastrophic Antiphospholipid Syndrome
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Catastrophic antiphospholipid syndrome (CAPS) is a very rare, life-threatening autoimmune blood-clotting disorder. In this condition, the immune system makes ...

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Crome Syndrome
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Crome syndrome is an extremely rare and very severe genetic syndrome that affects the eyes, brain, and kidneys of a newborn baby. It is also called ...

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Congenital Cataract Nephropathy Encephalopathy Syndrome
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Congenital cataract, nephropathy, encephalopathy syndrome (often called Crome syndrome) is an extremely rare genetic disease in which a baby is born with three ...

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