User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Osteogenesis Imperfecta with Congenital Joint Contractures
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Osteogenesis imperfecta with congenital joint contractures is a very rare, inherited bone and connective-tissue disorder in which a baby is born with stiff ...

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Bruck Syndrome
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Bruck syndrome is a rare genetic bone and joint disorder. Babies are born with stiff joints (called contractures) and bones that break easily. Doctors describe ...

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Undulant Fever (Human Brucellosis)
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Undulant fever—also called brucellosis or Malta fever—is a bacterial infection you can get from contact with infected animals or from eating or drinking ...

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Maltese Fever
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Maltese fever is an infection in humans caused by Brucella bacteria. These germs live mainly in animals such as goats, sheep, cows, pigs, and dogs. People get ...

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Brucellosis
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Brucellosis is an infection you get from Brucella bacteria. People are usually infected by unpasteurized milk or dairy, or by touching infected animals or ...

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CYLD Cutaneous Syndrome
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CYLD cutaneous syndrome (CCS) is a rare inherited condition in which people develop many small skin tumors—most often cylindromas, spiradenomas, and ...

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Brooke–Spiegler Syndrome (CYLD Cutaneous Syndrome)
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Brooke–Spiegler syndrome is a rare inherited condition that causes many small skin tumors to grow over time, most often on the scalp, face, and neck. These ...

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Bronchiolitis Obliterans with Obstructive Pulmonary Disease
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Bronchiolitis obliterans with obstructive pulmonary disease is a small-airway disease also called constrictive bronchiolitis or obliterative bronchiolitis. It ...

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Idiopathic Bronchiolitis Obliterans with Organizing Pneumonia
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Idiopathic bronchiolitis obliterans with organizing pneumonia is an inflammatory lung disease. The tiny airways (bronchioles) and the neighboring air sacs ...

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Cryptogenic Organizing Pneumonitis
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Cryptogenic organizing pneumonitis (COP)—also called cryptogenic organizing pneumonia or bronchiolitis obliterans organizing pneumonia (BOOP)—is an ...

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Cryptogenic Organizing Pneumonia (COP
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Cryptogenic organizing pneumonia (COP) is an inflammatory lung disease. “Cryptogenic” means the trigger is unknown. “Organizing pneumonia” describes the way ...

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Bronchiolitis Obliterans Organizing Pneumonia (BOOP)
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Bronchiolitis Obliterans Organizing Pneumonia (BOOP)—most often called Organizing Pneumonia (OP), and Cryptogenic Organizing Pneumonia (COP) is a healing ...

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Brody Myopathy
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Brody myopathy (also called Brody disease) is a rare, inherited muscle condition where muscles have trouble relaxing after they contract. People often feel ...

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Type VIB Ehlers–Danlos Syndrome (FKBP14-Related Kyphoscoliotic EDS)
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Type VIB Ehlers-Danlos syndrome is a rare, inherited connective-tissue disorder caused by pathogenic variants in the FKBP14 gene. It typically presents with ...

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Brittle Cornea Syndrome Type 1 (BCS1)
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Brittle cornea syndrome type 1 (BCS1) is a very rare, inherited connective-tissue disorder where the clear front window of the eye (the cornea) is extremely ...

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Brittle Cornea Syndrome (BCS)
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Brittle cornea syndrome is a very rare inherited disorder that makes the clear front window of the eye (the cornea) extremely thin and fragile. Because the ...

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X-Linked Mental Retardation, Reish Type
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“X-linked mental retardation, Reish type” is an old name for a rare, inherited condition first described by Dr. Reish and colleagues. Today it is usually ...

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BRESHECK (BRESEK) Syndrome
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BRESHECK (also written BRESEK) is a very rare genetic condition seen mostly in boys. It affects many parts of the body from birth. The name is an acronym that ...

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Brain Anomaly, Severe Intellectual Disability, Ectodermal Dysplasia, Skeletal Deformity, Ear Anomaly, Kidney Dysplasia Syndrome
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Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome.” Clinicians usually shorten ...

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