PRADER WILLI SYNDROME

ABOUT IT

• It is a complex genetic condition that affects many parts of the body
• Some people,particularly those with obesity
• also develop type 2 diabetes mellitus
• In infancy, this condition is characterized by weak muscle tone
• feeding difficulties, poor growth, and delayed development

CAUSES

• Can be caused by the loss of genes in a specific region of chromosome 15
• People normally inherit one copy of this chromosome from each parent
• Researchers are working to identify genes on chromosome 15 that
• are responsible for the characteristic features of this syndrome
• Most cases occur when a segment of the paternal chromosome 15 is deleted in each cell

SIGNS/SYMPTOMS

• Typically have mild to moderate intellectual impairment and learning disabilities
• Behavioral problems are common
• Distinctive facial features, short stature, and small hands and feet
• Unusually fair skin and light-colored hair
• Both affected males and affected females have underdeveloped genitals

TREATMENT

• Use of special nipples or tubes for feeding difficulties
• Strict supervision of daily food intake, growth hormone therapy
• Sleep studies, physical therapy, behavioral therapy
• Replacement of sex hormone, treatment of curvature spine
• Eye treatment for eye problems, medications