Amelogenesis imperfecta is a group of rare, inherited conditions where the outer white layer of the teeth (enamel) does not form normally. The problem starts ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Kohlschütter–Tönz syndrome (KTS) is a very rare inherited condition. It usually starts in the first year of life. The key signs are: seizures (epilepsy), slow ...
Epilepsy–dementia–amelogenesis imperfecta syndrome is a genetic disease that a child gets when they inherit a faulty copy of a gene from both parents. The most ...
Amelocerebrohypohidrotic syndrome is a rare, inherited disorder. It mainly affects the teeth, the brain, and the sweat glands. Children usually begin to show ...
Ameloblastoma is a slow-growing tumor that starts from the cells that help form teeth (the enamel-making cells). It most often happens in the lower jaw ...
Ameloblastoma is a rare tumor that starts from the tooth-forming cells in the jaw. These cells are called ameloblasts, and they normally help make enamel. In ...
An odontoma is a benign (non-cancerous) growth made from the same hard tissues that build a normal tooth: enamel, dentin, cementum, and sometimes pulp. It ...
Ameloblastic carcinoma is a rare, aggressive cancer that starts from the tooth-forming epithelium inside the jaw bones (mandible or maxilla). It looks and ...
Forelimb non-syndromic amelia means a baby is born without one (or both) upper limb(s), and this happens by itself—not as part of a wider syndrome (like heart, ...
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 ...
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 ...
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 ...
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 ...
Ambras type hypertrichosis universalis congenita is an extremely rare genetic skin condition present from birth. A baby with this condition grows a lot of ...
Amaurosis-Hypertrichosis Syndrome is a very rare, inherited condition that affects the eyes and body hair. Babies are born with serious retina problems (the ...
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, ...
Alzheimer disease without neurofibrillary tangles” means a situation where a person shows Alzheimer-type amyloid plaques in the brain, but tau neurofibrillary ...
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 ...
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 ...
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 ...
