PHACE Introduction Clinical Features Diagnosis...

Introduction Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare neurodevelopmental disorder caused by a microdele...

Overview Stickler syndrome is a rare, inherited connective tissue disorder that affects multiple organ systems, primarily the eyes, ear...

Overview Pierre Robin Syndrome (PRS) is a congenital condition characterized by a triad of abnormalities: micrognathia (small lower jaw...

Overview Rett syndrome is a rare, progressive, neurodevelopmental disorder that primarily affects females. It is characterized by norma...

Van der Woude Syndrome (VWS) is a rare genetic disorder characterized by congenital lip pit and cleft lip/palate anomalies. It is an auto...

Waardenburg Syndrome (WS) is a rare genetic disorder characterized by pigmentary anomalies and sensorineural hearing loss. It is a group ...

Overview Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of the short arm of chromosome 4 (4...