User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Biotin-Responsive Basal Ganglia Disease (BRBGD)
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Biotin-responsive basal ganglia disease is a rare, inherited brain energy problem. It happens when brain cells cannot move enough thiamine (vitamin B1) into ...

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Maxillonasal Dysplasia Syndrome
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Maxillonasal dysplasia syndrome—often called Binder syndrome—is a rare condition present at birth. It mainly affects the middle of the face, especially the ...

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Maxillonasal Dysostosis
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Maxillonasal dysostosis is a rare, birth-present (congenital) condition in which the middle of the face and the nose are under-developed. The bridge of the ...

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Binder Type Maxillonasal Dysplasia
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Binder type maxillonasal dysplasia—often called Binder syndrome—is a rare condition present at birth in which the central face does not develop fully, ...

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Maxillo-Nasal Dysplasia
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Maxillo-nasal dysplasia (often called Binder syndrome) is a rare birth condition where the middle part of the face—especially the upper jaw (premaxilla) and ...

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Binder Syndrome
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Binder syndrome is a rare, birth-present (congenital) condition in which the middle part of the face and the nose do not grow normally. The front of the upper ...

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Isolated Congenital Mirror Movements (CMM)
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Isolated congenital mirror movements (CMM) is a rare condition present from birth. When a person moves one hand or arm on purpose, the other hand or arm copies ...

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Isolated Congenital Contralateral Synkinesia
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Isolated congenital contralateral synkinesia means a person is born with involuntary movements on one side of the body that copy the voluntary movement on the ...

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Hereditary Congenital Mirror Movements
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Hereditary congenital mirror movements (often shortened to CMM) is a rare genetic movement condition present from early childhood. When a person tries to make ...

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Hereditary Congenital Contralateral Synkinesia
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Hereditary congenital contralateral synkinesia is a rare, lifelong movement disorder where an intentional movement on one side of the body is “mirrored” by an ...

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Hand Mirror Movements
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Hand mirror movements are involuntary, copy-cat motions that appear in one hand while you are trying to move only the other hand. For example, when you pinch ...

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Familial Congenital Mirror Movements
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Familial congenital mirror movements is a rare, often lifelong condition where a voluntary movement on one side of the body (usually a hand or fingers) is ...

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Familial Congenital Contralateral Synkinesia
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Familial congenital contralateral synkinesia means a person is born with extra, unintended movements on one side of the body that copy (or “mirror”) the ...

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Bimanual Synkinesia
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Bimanual synkinesia means that when you choose to move one hand, the other hand makes the same unwanted movement at the same time. The two hands “mirror” each ...

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Nuclear Jaundice
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Nuclear jaundice means brain injury in a newborn caused by very high levels of unconjugated bilirubin (the yellow pigment that makes newborns look jaundiced). ...

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Unconjugated Bilirubin
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Unconjugated bilirubin is a yellow waste pigment that your body makes when it breaks down old red blood cells. First, hemoglobin from red cells becomes ...

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Kernicterus of the Newborn
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Kernicterus is brain damage caused by very high levels of a yellow substance in the baby’s blood called unconjugated bilirubin. When bilirubin is too high, it ...

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Bilirubin Encephalopathy
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Bilirubin encephalopathy means brain injury caused by very high levels of unconjugated (indirect) bilirubin in a newborn’s blood. Unconjugated bilirubin can ...

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Malignant Tumor of the Biliary Tract
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A malignant tumor of the biliary tract is a cancer that starts in the thin tubes that carry bile. These tubes are called the bile ducts, and they run inside ...

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Malignant Biliary Tree Neoplasm
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A malignant biliary tree neoplasm is a cancer that starts in the tubes that carry bile. These tubes are called the bile ducts. They run inside the liver and ...

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