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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 ...
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 ...
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
Michelle Pfeiffer celebrated 30 years of marriage to her husband, David E. Kelley, with the sweetest selfie. The First Lady star shared a rare photo of the two on her Instagram page alongside the ...
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 ...
Trevor Noah (Taylor Hill / FilmMagic) The famous comedian and talk show host has struggled much of his life with ADHD, he revealed in a "60 Minutes" interview. He said he had a “severe level ...
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]
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]
Businessman. British. Sophia Mirza [39] A woman who was the first to have CFS listed as a cause of death in the UK [39] British. Stuart Murdoch [40] Musician, lead singer in the band Belle and Sebastian. British (Scottish) Stevie Nicks [41]