rare diseases

Occupational Therapy for Bannayan-Riley-Ruvalcaba Syndrome

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder characterized by the growth of noncancerous tumors called lipomas, along with small benign tumors called angiomas and other symptoms such as developmental delays and intellectual disabilities. It is considered an overgrowth syndrome. BRRS is caused by mutations in a gene, which plays a role in regulating cell … Read more

Occupational Therapy for Aarskog Syndrome

Aarskog Syndrome (AS) is also known as Aarskog-Scott Syndrome or less commonly, Facio-digito-genital Syndrome or Faciogenital Dysplasia. AS is a rare condition that affects predominantly males. It affects development and is characterized by abnormalities in the face, skeleton, and genitals. General features include short stature, webbed appearance of hands and feet, hyperflexible joints, short and … Read more