ASXL Syndromes

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.

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ASXL1/Bohring-Opitz Syndrome

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).

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ASXL2/Shashi-Pena Syndrome

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).

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ASXL3/Bainbridge-Ropers Syndrome

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. 

 

Features Overview

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.

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Craniofacial features

  • glabellar nevus simplex - birthmark on forehead
  • micro/retrognathia - small, recessed jaw 
  • low set, posteriorly rotated ears
  • hypertrichosis - abnormal amount of hair growth
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    Brain abnormalities

    • abnormal brain activity and shape 
    • seizures
    • microcephaly - small head
    • retinal/optic nerve abnormalities
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    Physical & motor disabilities

    • posture/flexion at the wrists
    • hypotonia - low muscle tone
    • cardiac, renal, & genital abnormalities
    • thoracic kyphosis - back curvature
    • intestinal malrotation