OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation

This entry refers to a form of Beckwith-Wiedemann syndrome (BWS) that was previously thought to be caused by mutations in the NSD1 gene. However, this classification is now considered obsolete, meaning the medical community no longer recognizes it as a distinct condition. The reason it was retired is that patients with NSD1 mutations who appeared to have Beckwith-Wiedemann syndrome were later found to actually have Sotos syndrome, a different overgrowth condition. Both conditions can share overlapping features such as large body size at birth, advanced bone age, and distinctive facial features, which initially caused diagnostic confusion. Beckwith-Wiedemann syndrome itself is an overgrowth disorder present from birth. It typically causes a large tongue (macroglossia), abdominal wall defects such as an omphalocele, enlarged organs, low blood sugar in newborns, and an increased risk of childhood tumors like Wilms tumor and hepatoblastoma. Classic BWS is caused by genetic or epigenetic changes on chromosome 11p15.5, not by NSD1 mutations. Sotos syndrome, which is the condition actually caused by NSD1 mutations, features overgrowth, a characteristic facial appearance with a long face and prominent forehead, intellectual disability, and advanced bone age. If you or your child received this specific diagnosis, it is important to speak with a clinical geneticist to clarify whether the correct diagnosis is Sotos syndrome or classic Beckwith-Wiedemann syndrome, as the management and tumor surveillance recommendations differ between these two conditions.

Bring these to your next appointment

• Q1.Is my child's diagnosis truly Beckwith-Wiedemann syndrome, or could it be Sotos syndrome or another overgrowth condition?,What specific genetic testing has been done, and should additional testing be performed to clarify the diagnosis?,What tumor screening schedule should we follow, and for how long?,What developmental milestones should I watch for, and when should I seek early intervention services?,Are there any dietary or blood sugar monitoring needs I should be aware of?,What is the chance this condition could occur again in future pregnancies?,Can you refer us to a multidisciplinary team experienced with overgrowth syndromes?

Common questions about OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation

Related conditions

Other rare diseases commonly researched alongside OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation.

• Beckwith-Wiedemann syndrome→
• Perlman syndrome→
• Simpson-Golabi-Behmel syndrome→
• Sotos syndrome→
• Weaver syndrome→