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Medical genetics. Muenke syndrome, also known as FGFR3-related craniosynostosis, [1] is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns.
Aniseikonia. Aniseikonia is an ocular condition where there is a significant difference in the perceived size of images. It can occur as an overall difference between the two eyes, or as a difference in a particular meridian. [1] If the ocular image size in both eyes are equal, the condition is known as iseikonia. [2]
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability. Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean. Most individuals display advanced bone age.
Epstein–Barr virus (EBV) is the first identified oncogenic virus, which establishes permanent infection in humans. EBV causes infectious mononucleosis and is also tightly linked to many malignant diseases. Various vaccine formulations underwent testing in different animals or in humans.
Macrodontia is a type of localized gigantism in which teeth are larger than normal. Macrodontia seen in permanent teeth is thought to affect around 0.03 to 1.9 percent of the worldwide population. Generally, patients with macrodontia have one or two teeth in their mouth that is abnormally large; however, single tooth growth is seen in a number ...
Choanal atresia is a congenital disorder where the back of the nasal passage ( choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed hole development of the nasal fossae during prenatal development. It causes persistent rhinorrhea, and with bilateral choanal atresia and obstructed airway that can cause cyanosis ...
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]
Rapunzel syndrome is characterized by a compulsive disorder of pulling one's own hair and ingesting it. There are several psychiatric disorders that are associated with Rapunzel syndrome, such as trichotillomania, trichophagia, and pica. Trichotillomania is the compulsion to pull out one's own hair; if an individual consumes it after ripping it ...