Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Caudal Duplication
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Caudal duplication (also called caudal duplication syndrome) is a very rare birth defect where some body parts in the lower half of the body are partly or ...

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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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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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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 ...

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Cataract-Nephropathy-Encephalopathy Syndrome
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Cataract-nephropathy-encephalopathy syndrome is an extremely rare, life-threatening genetic disorder that affects the eyes, kidneys, and brain of a very young ...

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Congenital Cataract with Hypertrichosis and Intellectual Disability Syndrome
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Congenital cataract with hypertrichosis and intellectual disability syndrome is an extremely rare genetic condition in which a baby is born with cloudy lenses ...

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CAHMR Syndrome (Cataract, Hypertrichosis, Mental Retardation)
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CAHMR Syndrome (cataract, hypertrichosis, mental retardation) syndrome is an ultra-rare genetic condition. Children are born with cataracts in both eyes, very ...

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Cataract-Hypertrichosis-Intellectual Disability Syndrome
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Cataract-hypertrichosis-intellectual disability syndrome is an extremely rare genetic condition in which a child is born with cloudy lenses in the eyes ...

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CAGSSS Disease
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CAGSSS disease is a very rare genetic condition that affects many parts of the body, especially the eyes, growth, nerves, ears, and bones. The name “CAGSSS” ...

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Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
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Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is a very rare inherited condition that affects ...

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Cataract-Glaucoma Syndrome
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Cataract-glaucoma syndrome is a rare inherited eye disorder where a baby is born with dense cataracts in both eyes, and then develops secondary glaucoma later ...

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Schaap-Taylor-Baraitser Syndrome
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Schaap-Taylor-Baraitser syndrome is the name first given to a very rare genetic condition now usually called cataract-deafness-hypogonadism syndrome. It was ...

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Cataract-Deafness-Hypogonadism Syndrome
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Cataract-deafness-hypogonadism syndrome is an extremely rare genetic disorder in which a child is born with three main problems together: clouding of the eye ...

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