Archives Syndromes

Tuberous sclerosis complex Syndrome description Tuberous sclerosis syndrome is a multisystem disorder characterized by a wide clinical spectrum, from simple skin signs (facial angiofibromas, fibrous facial plaques, hypomelanotic macules, shagreen patches, ungual fibromas) to severe neurological pathologies (epilepsy, developmental delay,…

Noonan syndrome Syndrome description Noonan syndrome is a dysmorphic syndrome characterized after birth by: a particular aspect of facial features (hypertelorism, a downward eye slant, low-set posteriorly rotated ears), short stature, a webbed neck, cardiac anomalies, deafness, motor delay, and…