User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Amelia of the Upper Limb
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Amelia of the upper limb means a baby is born without an arm. In true amelia, the whole limb is missing from the shoulder region. There is no upper arm ...

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Non-Syndromic Amelia of the Hindlimb
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Non-syndromic amelia of the hindlimb means a baby is born without one or both legs (the lower limb is completely missing), and no other major birth-defect ...

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Amelia of the Lower Limb
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Amelia of the lower limb means a baby is born without a leg. The whole limb is missing from the hip down, rather than only a part like the foot or the lower ...

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Ambras Syndrome
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Ambras syndrome is a very rare genetic condition in which a person is born with too much soft body hair. The hair is fine, light-colored, and silky. It often ...

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Ambras Type Hypertrichosis Universalis Congenita
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Ambras type hypertrichosis universalis congenita is an extremely rare genetic skin condition present from birth. A baby with this condition grows a lot of ...

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Amaurosis-Hypertrichosis Syndrome (AHS)
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Amaurosis-Hypertrichosis Syndrome is a very rare, inherited condition that affects the eyes and body hair. Babies are born with serious retina problems (the ...

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Alzheimer’s Disease Type 15 (AD15)
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Alzheimer’s disease type 15 (often shortened to AD15) is a rare, inherited form of dementia. Families with this condition develop gradual problems with memory, ...

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Alzheimer Disease without Neurofibrillary Tangles
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Alzheimer disease without neurofibrillary tangles” means a situation where a person shows Alzheimer-type amyloid plaques in the brain, but tau neurofibrillary ...

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Late-Onset Familial Alzheimer’s Disease (LOFAD)
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Late-onset familial Alzheimer’s disease means Alzheimer’s disease that begins at age 65 or later and runs in families. In these families, more than one close ...

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Alzheimer’s Disease Associated with APOE-ε4 (APOE4)
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Alzheimer’s disease is a progressive brain condition that slowly damages memory, thinking, and daily function. In most people it begins after age 60–65 and ...

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Late-Onset Alzheimer Disease 2 (AD2)
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Late-onset Alzheimer disease 2 (AD2) is a type of Alzheimer’s disease that usually starts after age 65. It develops slowly. At first, a person may forget ...

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Adult Alveolar Soft Part Sarcoma (ASPS)
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Alveolar soft part sarcoma (ASPS) is a very rare cancer that starts in soft tissues like muscle or tendon. It often grows slowly at first. It can spread ...

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Alveolar Soft Part Sarcoma (ASPS)
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Alveolar soft part sarcoma (ASPS) is a very rare cancer that starts in soft tissues (muscle and nearby tissues). It often grows slowly at first, so people may ...

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Pediatric Alveolar Rhabdomyosarcoma (ARMS)
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Pediatric alveolar rhabdomyosarcoma (ARMS) is a rare, fast-growing childhood cancer that starts in very early muscle cells. These are baby muscle cells that ...

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Monomorphous Round Cell Rhabdomyosarcoma
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Monomorphous round cell rhabdomyosarcoma is an older or alternate name doctors have used for a type of rhabdomyosarcoma (RMS) that looks very uniform ...

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Alveolar Childhood Rhabdomyosarcoma
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Alveolar childhood rhabdomyosarcoma is a fast-growing cancer that starts from very early muscle-forming cells. These cells are called rhabdomyoblasts. In this ...

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Alveolar Rhabdomyosarcoma (ARMS)
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Alveolar rhabdomyosarcoma (ARMS) is a fast-growing cancer that starts in cells that should normally become skeletal muscle. Under the microscope, the tumor ...

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Echinococcus Multilocularis Infectious Disease
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Echinococcus multilocularis infectious disease is also called alveolar echinococcosis (AE) or alveolar hydatid disease. It happens when a person swallows ...

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Echinococcus Multilocularis Infection
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Echinococcus multilocularis infection is a tiny tapeworm that lives in the intestines of wild foxes and other canids. Its eggs leave the animal in feces and ...

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Echinococcus Multilocularis Disease
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Echinococcus multilocularis disease is an infection caused by a tiny tapeworm called Echinococcus multilocularis. People get it when they swallow parasite ...

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