User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Cystosarcoma Phyllode of the Breast
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Cystosarcoma phyllode of the breast —now usually called a phyllodes tumor—is a rare breast growth that starts in the connective (stromal) tissue of the breast ...

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Fibroepithelial Breast Lump
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A fibroepithelial breast lump is a growth in the breast made of two parts: fibrous (support) tissue and gland (milk-duct) tissue. The two main types are ...

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Benign Breast Phyllodes Tumor
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A benign breast phyllodes tumor is a rare, fast-growing fibroepithelial breast lump made of breast ducts and a leaf-like (phyllodes) overgrowth of supporting ...

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Benign Angiitis of the Central Nervous System
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Benign angiitis of the central nervous system means inflammation of blood vessels inside the brain and spinal cord. “Benign” is an old word and not accurate, ...

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Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE)
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Familial cortical myoclonic tremor with epilepsy is a rare, inherited brain disorder. It causes tiny, shock-like muscle jerks that look like a shaky tremor, ...

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Autosomal Dominant Cortical Myoclonus and Epilepsy (ADCME)
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Autosomal dominant cortical myoclonus and epilepsy (ADCME) is a rare, inherited brain disorder. “Autosomal dominant” means one changed gene from either parent ...

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Benign Adult Familial Myoclonic Epilepsy (BAFME
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Benign adult familial myoclonic epilepsy (BAFME) is a rare, inherited brain condition. It usually starts in late teenage years or during adult life. The main ...

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Hemifacial Hyperplasia-Strabismus Syndrome
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Hemifacial hyperplasia-strabismus syndrome is a very rare condition where one side of the face grows more than the other, and the person also has eye ...

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Hemifacial Hyperplasia–Strabismus Syndrome
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Hemifacial hyperplasia–strabismus syndrome is a very rare birth condition where one side of the face grows more than the other and the eyes do not point in the ...

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Bencze Syndrome
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Bencze syndrome is an extremely rare birth condition. It causes one side of the face to grow a little more than the other, and it often appears together with ...

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Oculo-Cerebral Dysplasia
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Oculo-cerebral dysplasia describes very rare developmental conditions present from birth in which eye structures and the brain form abnormally, often alongside ...

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Behrens-Baumann-Vogel Syndrome (BBVS)
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Behrens-Baumann-Vogel syndrome is a very rare birth condition that affects the eyes and the brain. Babies are born with very small eyes (microphthalmia) and ...

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Behrens-Baumann–Dust Syndrome
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Behrens-Baumann–Dust syndrome is a very rare, inherited condition that mainly affects the eyes and the brain. It was first described in two siblings who had ...

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Behavioral Variant Frontotemporal Dementia (bvFTD)
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Behavioral variant frontotemporal dementia (bvFTD) is a progressive brain disorder that mainly damages the frontal and temporal lobes, the regions that control ...

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Lethal Hydrocephalus–Cardiac Malformation–Dense Bones Syndrome
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Lethal hydrocephalus–cardiac malformation–dense bones syndrome is a very rare, likely genetic condition seen before birth or at delivery. Babies have ...

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Benign Pseudohypertrophic Muscular Dystrophy
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Benign pseudohypertrophic muscular dystrophy is an older name for Becker muscular dystrophy (BMD). It is a genetic, X-linked muscle disease. ...

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Benign Congenital Myopathy
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Benign congenital myopathy means a group of genetic muscle problems that start at birth or early childhood. The main signs are soft muscles (low tone), weak ...

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X-linked Recessive Becker Muscular Dystrophy (BMD)
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 X-linked recessive Becker muscular dystrophy (BMD) is a genetic muscle disease. It happens when a change (mutation) in the DMD gene lowers the amount or ...

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Becker Dystrophinopathy
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Becker dystrophinopathy is a genetic muscle disease. It causes slow loss of muscle strength over time. It mostly affects boys and men. It happens because the ...

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Becker Muscular Dystrophy (BMD)
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Becker muscular dystrophy (BMD) is a genetic muscle disease. It weakens muscles slowly over many years. It mainly affects boys and men. The problem is a change ...

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