Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides o...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Hypermobility syndrome facts The joint hypermobility syndrome is a condition that features joints that easily move beyond the normal range expected for a particular joint. Hypermobile joints tend to be inherited. ...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype...

SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:(S)= short st...

General DiscussionWilliams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of ...