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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.
Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly that is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
Daniel Kahneman, who won the 2002 Nobel Memorial Prize in Economics for his work developing prospect theory. Prospect theory is a theory of behavioral economics, judgment and decision making that was developed by Daniel Kahneman and Amos Tversky in 1979. [1]
Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
Takayasu's arteritis (TA), also known as aortic arch syndrome, nonspecific aortoarteritis, and pulseless disease, [2] is a form of large vessel granulomatous vasculitis [3] with massive intimal fibrosis and vascular narrowing, most commonly affecting young or middle-aged women of Asian descent, though anyone can be affected.
Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber.
Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized by the signs typical of Pierre Robin sequence along with facial dysmorphisms and digital anomalies. Intellect is not affected.