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Named after. Rudolf Arthur Pfeiffer. 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.
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 ...
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 ...
Famous patients. Notable people who have or had Marfan syndrome include: Isaiah Austin; Javier Botet; Austin Carlile; Bradford Cox; Euell Gibbons; Emmanuel Giroux [citation needed] Flo Hyman; Jonathan Jeanne; Vincent Schiavelli; Troye Sivan; John Tavener; Peter Mayhew
Infectious mononucleosis ( IM, mono ), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). [2] [3] Most people are infected by the virus as children, when the disease produces few or no symptoms. [2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck ...
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 ...
British. Alma mater. Brighton University. Occupation (s) Actor, television presenter, advocate. Adam Pearson (born 6 January 1985) is a British actor, presenter and campaigner. He appeared in the 2013 film Under the Skin. [1] He has neurofibromatosis and has been involved in outreach programmes to prevent bullying associated with deformities.
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 ...
Charles I. Scott Jr. Aarskog–Scott syndrome ( AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome. [3] [4]
The game's name is a reference to "six degrees of separation", a concept that posits that any two people on Earth are six or fewer acquaintance links apart. In 2007, Bacon started a charitable organization called SixDegrees.org. In 2020, Bacon started a podcast called The Last Degree of Kevin Bacon. [1]