Prader willi syndrome Flashcards
1
Q
what is it
A
caused by genomic imprinting
child only expresses the maternally inherited version of the gene
2
Q
symtoms
A
Hypotonia and poor feeding in infancy
Developmental delay in early childhood
Learning disabilities
Short stature
Hyperphagia and obesity in older childhood. Parents commonly report children will eat anything and everything and be hungry all the time, to the extent that they have to lock everything in the house and the child will even eat bars of soap if left unsupervised
