What causes overgrowth syndrome?

Overgrowth syndromes are caused by gene mutations or abnormalities. The exact genetic cause is sometimes unknown. In some children the overgrowth may be the result of an inherited gene change, while other children have a new gene change with no family history.

What is Rahman syndrome?

Rahman syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). The overgrowth is more apparent in infancy and may lessen with time.

What is postnatal overgrowth?

Clinical characteristics Sotos syndrome (SS, OMIM#117550), also known as cerebral gigantism, is a prenatal and postnatal overgrowth syndrome characterized by excessive growth resulting in tall stature and macrocephaly, distinctive craniofacial features, and developmental delay.

What is DNMT3A responsible for?

The de novo DNA methyltransferase DNMT3A is responsible for the establishment of de novo genomic DNA methylation patterns and, as such, involved in normal development as well as in many diseases including cancer.

At what age is BWS diagnosed?

Hepatoblastoma, a cancer of the liver, is the second-most common cancer in patients with Beckwith-Wiedemann syndrome or isolated hemihypertrophy. This cancer usually develops by 2 years of age.

How common is Malan syndrome?

How many individuals are diagnosed with Malan syndrome? There are around 200 individuals worldwide (as of January 2022) with a genetically-confirmed diagnosis of Malan syndrome.

What is the difference between DNMT3A and Dnmt3b?

DNMT3A primarily methylates a set of genes and sequences at the late stage of embryonic development and especially after birth, whereas DNMT3B modifies a broader region of genomic sequences in early embryos [2, 6].

What is the difference between DNMT3A and DNMT3B?