Nevo syndrome


Nevo syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy. Nevo syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. The exact mechanism as to how the chromatin is changed is unknown and still being studied. Nevo syndrome is an example of one of about twelve overgrowth syndromes known today. Overgrowth syndromes are characterized with children experiencing a significant overgrowth during pregnancy and also excessive postnatal growth. Studies concerning Nevo syndrome have shown a similar relation to Ehlers–Danlos syndrome, a connective tissue disorder. Nevo syndrome is associated with kyphosis, an abnormal increased forward rounding of the spine, joint laxity, postpartum overgrowth, a highly arched palate, undescended testes in males, low-set ears, increased head circumference, among other symptoms.

Related Problems:
Sotos syndrome
Medicine Pathology
Problem Type:
G: Very specific problems
Date of last update
04.10.2020 – 22:48 CEST