Prader-Willi

• 15q deletion of bands 11-13, paternal origin

Characteristics

• Severe hypotonia at birth, poor feeding in infancy / FTT
• FTT changes to hyperphagia/obesity when older, usually after age 1

Appearance

• Facies: dolichocephaly, narrow bifrontal diameter, almond shaped eyes, small mouth
• short stature, mental retardation (mild to moderate)
• big stuff: obesity involves trunk, limbs and face
• small stuff: small hands and feet, genital hypoplasia in males (micropenis)
• fair hair and skin in many patients, especially with a deletion of chromosome 15.

Unusual signs

• excessive skin picking
• thick saliva

Associated with Puberty, delayed.
 

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes