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Harlequin syndrome, also known as "harlequin sign", is a condition characterized by asymmetric sweating and flushing on the upper thoracic region of the chest, neck and face. Harlequin syndrome is considered an injury to the autonomic nervous system (ANS).
[4] [5] The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders characterised by scaly skin. [8] Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. [4]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
A teenager is going viral after sharing a video of her self-described “weird, undiagnosed” condition.
Harlequin color change is a cutaneous condition seen in newborn babies characterized by momentary red color changes of half the child, sharply demarcated at the body's midline. This transient change occurs in approximately 10% of healthy newborns. [ 1 ]
Harlequin syndrome; Harris platelet syndrome; Harrison syndrome; Havana syndrome; Hay–Wells syndrome; Hearing loss with craniofacial syndromes; HEC syndrome; Heel ...
Harlequin-type ichthyosis (harlequin baby, harlequin fetus, harlequin ichthyosis, ichthyosis congenita, ichthyosis congenita gravior) Hay–Wells syndrome (AEC syndrome, ankyloblepharon filiforme adnatum–ectodermal dysplasia–cleft palate syndrome, ankyloblepharon–ectodermal defects–cleft lip and palate syndrome, ankyloblepharon ...
Colin Farrell reveals son's Angelman syndrome diagnosis. Colin Farrell, an Oscar-nominated actor, has launched the Colin Farrell Foundation, which is "committed to transforming the lives of ...