Opitz-Kaveggia syndrome
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FG syndrome (FGS; also known as Opitz–Kaveggia syndrome) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by Opitz and Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).
FG syndrome's major clinical features include intellectual disability, usually severe; hyperactive behavior, often with an outgoing personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip, and partial or complete loss of the corpus callosum. About a third of reported cases of individuals with FG syndrome die in infancy, usually due to respiratory infection; premature death is rare after infancy.
Associated with agenesis (loss) of the corpus callosum, intellectual disabilities are common among individuals with FG syndrome. Motor ability is also impaired as a result of having FG syndrome and its effects on the development of neurons. During infancy, problems arise in the gastrointestinal and gastroesophageal systems of the body. The most common gastrointestinal problems include constipation from imperforated anuses and gastroesophageal reflux. Cardiopulmonary defects also contribute to roughly 60% of premature deaths in infants with FG syndrome. Of all of the congenital heart defects septal defects are the most common. After infancy, long term survival has been recorded to individuals surviving beyond the age of 50.
Most mutations that cause FG syndrome can be found in the MED12 gene. However, mutations have also been found in FMR1, FLNA, UPF3B, CASK, MECP2, and ATRX genes. Mutations on these different genes lead to the different types of FG syndrome, all with similar characteristics. The FGS1 type mutation is the most common of the types, and is found in the MED12 gene.
Known types and affected genes include:
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