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Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Child displaying typical facial phenotype of Kabuki syndrome. Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. [3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.
Groucho glasses, also known as nose glasses, the beaglepuss, or the GM 20/20s, are a humorous novelty disguise which function as a caricature of the stage makeup used by the comedian Groucho Marx in his movies and vaudeville performances. They typically consist of black frames (either round or horn-rimmed) with attached features including bushy ...
Saethre–Chotzen syndrome ( SCS ), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull ). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Birt–Hogg–Dubé syndrome ( BHD ), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons[ 1] is a human, adult onset, autosomal dominant genetic disorder caused by a mutation in the folliculin ( FLCN) gene. It can cause susceptibility to kidney cancer ...
In a first-of-its-kind collaboration, Ralph Lauren this month announced its partnership with Diné (Navajo) textile artist Naiomi Glasses.The seventh-generation weaver became the brand’s ...
Macrocephaly. Specialty. Medical genetics. Macrocephaly is a condition in which circumference of the human head is abnormally large. [ 1] It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by ...
Specialty. Gastroenterology. Nutcracker esophagus, jackhammer esophagus, or hypercontractile peristalsis, is a disorder of the movement of the esophagus characterized by contractions in the smooth muscle of the esophagus in a normal sequence but at an excessive amplitude or duration. Nutcracker esophagus is one of several motility disorders of ...