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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull ( craniosynostosis ), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations in the fibroblast ...
Katie meets Amit, a university student with neurofibromatosis, and aspiring comic book illustrator Andrew, who has Treacher-Collins syndrome. 5 April 2011 1.4: Katie meets Kayleigh, who has Pfeiffer syndrome, and George, who is undergoing surgery for a form of inherited skin cancer. She also revisits Chantelle to check on her progress. 12 April ...
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye ), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there ...
1 in 5,000–10,000 [4] Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
1:30,000 (males), 1:125,000 (females) Kallmann syndrome ( KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional ...
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...
Website. tomcruise .com. Signature. Thomas Cruise Mapother IV (born July 3, 1962) is an American actor and producer. Regarded as a Hollywood icon, [1] [2] [3] he has received various accolades, including an Honorary Palme d'Or and three Golden Globe Awards, in addition to nominations for four Academy Awards.
Jackson–Weiss syndrome ( JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull ( craniosynostosis ), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. [2]
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.