05.02.2013: Review article - .Eva Albertsen Malt, Renate Charlotte Dahl, Trine Marie Haugsand, Ingebjørg H. Ulvestad, Nina Merete Emilsen, Børre Hansen, Yon Eduin Galezo Cardenas, Rolf Olof Skøld, ...

Videos appear to be stolen from women without Down syndrome and then a filter is applied to their face to generate an AI-enhanced video, which replaces the original poster’s features with a ...

They shared similar dysmorphic facial features and were characterised by the same kind of developmental delays. "It was very, very clear, very quickly that we found something that was really ...

Several companies are working on new investigational treatments for Angelman syndrome, a rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, ...

Facial dysmorphia is a form of body dysmorphic disorder (BDD) in which someone becomes very fixated on one or more facial imperfections or flaws that they believe they have. Treatment may involve ...

Down’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and characteristic phenotypic features such as flat facies, upslanting palpebral ...

Melkersson-Rosenthal syndrome is a neurological disorder that causes facial paralysis, swelling, and tongue furrows. Learn more about this rare condition.

Epilepsy is common, affecting 0.5–1% of the population. Of these, a third are women of reproductive age, and approximately 1 in 250 pregnancies are exposed to antiepileptic drugs (AEDs). AEDs can ...

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple ...

What is Facial Dysmorphia? Facial dysmorphia, the official name for “demon face syndrome,” is a subtype of Body Dysmorphic Disorder (BDD). BDD is a mental health condition characterised by an ...

Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a ...

Zellweger syndrome is a rare genetic disorder involving a wide range of possible signs and symptoms. It affects around 1 in every 50,000 live births in the United States, and its effects can vary ...