Study of phenotype in Silver-Russell syndrome patients with known molecular abnormalities

Silver-Russell syndroom (SRS) is a rare hereditary condition, resulting in
short stature, certain physical characteristics and asymmetries. two improtant
genetic causes exist: hypomethylation of th H19 region; and uniparental disomy
of chromosme 7.

Inventarisation of the different physical characteristics of SRS at different
ages. In this way, differences in phenotype between the 2 diferent causes of
SRS will become apparent. Also, with this knowledge, more rpecise and elaborate
information about SRS can be given to patients and parents of children with the
diagnosis SRS.

children and adults known with a genetic abnormality resulting in SRS will be
appraoched by contacting their doctor, who will send them a letter and
information with the question, if the patient/parents are willing to cooperate
with the study. The stduy itself encompasses, for the adult or child with SRS,
answering questions about their own health and a physical (external only)
medical examination in the AMC or a hopsital more closeby.

burden: low
risk" none