Silver-Russell syndrome

Silver-Russell syndrome Relevant markers:

Asymmetry of limbsHypospadias/tulip signMicrognathia/retrognathiaProminent foreheadSingle umblical artery (SUA)Undescended testesClinodactyly 5th finger

Parents markers:

Intrauterine growth retardation (IUGR/SGA/FGR)Short limbsSyndactyly of toes

Incidence:

1/100000 — 30/100000

Male — Female Ratio:

1 — 1

Involved genes:
(gene — definition — chromosome)

11p15.5, ICR1 — 7p11.2

Inheritance mode:

Hypomethylation, Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2011	Plos One	Read on PubMed
2012	Expert Rev Mol Diagn	Read on PubMed
2012	Indian J Endocrinol Metab	Read on PubMed