The ASXL family consists of ASXL1/Bohring-Opitz Syndrome, ASXL2/Shashi-Pena Syndrome, & ASXL3/Bainbridge-Ropers Syndrome. Click on the links below to learn more about these syndromes and connect with other ASXL families.
Bohring-Opitz Syndrome (BOS) is a very rare congenital disorder. In 2015, there are less than 60 children in the world, diagnosed with this syndrome and presented in medical articles (Russell, B. et al. 2015).
Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).
Bainbridge-Ropers Syndrome (BRS) is named after the genetic researchers who discovered the location of ASXL3 gene and documented some of the ways it affects people with the mutation. BRS is a list of common traits and symptoms that some people have when their ASXL3 gene has a mutation.
glabellar nevus simplex - birthmark on forehead
micro/retrognathia - small, recessed jaw
low set, posteriorly rotated ears
hypertrichosis - abnormal amount of hair growth
abnormal brain activity and shape
microcephaly - small head
retinal/optic nerve abnormalities
Physical & motor disabilities
posture/flexion at the wrists
hypotonia - low muscle tone
cardiac, renal, & genital abnormalities
thoracic kyphosis - back curvature
This diagram shows some commonalities of the three ASXL syndromes. There are many similarities between Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
Each child with ASXL syndromes is affected differently, but the physical appearance of the children is often alike and the clinical phenotype at birth is similar. Not every child will have all of these certain physical characteristics.
This diagram is based on the diagram made by Caitlin Calder. It gives an overview of what we learned about the three ASXL syndromes and that we have much more in common than different.