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Angelman syndrome ( AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. [6]
امارات. United Arab Emirates portal. The United Arab Emirates [b] ( UAE ), or simply the Emirates, [c] is a country in West Asia, in the Middle East. Located at the eastern end of the Arabian Peninsula, it shares borders with Oman and Saudi Arabia; as well as maritime borders in the Persian Gulf with Qatar and Iran.
Mariska Magdolna Hargitay [1] ( / məˈrɪʃkə ˈhɑːrɡɪteɪ /; [2] born January 23, 1964) [3] [4] is an American actress and producer. The daughter of bodybuilder and actor Mickey Hargitay and actress Jayne Mansfield, her accolades include an Emmy Award, a Golden Globe Award, and two People's Choice Awards . Hargitay's interest in acting ...
Rheumatology. Weber–Christian disease is a cutaneous condition characterized by recurrent subcutaneous nodules that heal with depression of the overlying skin. [1] It is a type of panniculitis. [2] It is a rare disease seen in females 30–60 years of age. It is a recurring inflammation of fatty layers of tissue present beneath the skin.
TAR syndrome ( thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. [1] It is associated with cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele.
Frequency. 1 in 20,000 newborns [1] Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [3] [1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [1] Typically, the right side is involved. [3]
Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly [FATCO] syndrome) is a rare genetic disease that causes congenital limb formation. [citation needed] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia) of the limb. [1] It is currently presenting in less than 1 in ...
Baller–Gerold syndrome. Baller–Gerold syndrome ( BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones. [1] The symptoms of Baller–Gerold syndrome overlap with features of a few other genetics disorders: Rothmund–Thomson syndrome and RAPADILINO syndrome. [1]