Aug 12, 2019
The participant was found to have limited joint movement (arthrogryposis) prenatally. She has required surgery to restore more flexibility to some of her joints. She currently has contractures at her shoulders, elbows and hips. She also has deviated fingers and toes, small thumbs, and rocker bottom feet (bilateral vertical talus).
The participant has been diagnosed with low muscle tone (hypotonia), developmental delays, feeding problems and abnormal hip development (dysplasia, subluxations) as well. In addition, she has short stature and some facial differences (hypertelorism, micrognathia, epicanthus).
The participant has been making developmental progress over time and is currently nonverbal.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms. A change in the MYH8 gene has been associated with trismus-pseudocamptodactyly syndrome, also called arthrogryposis, distal, 7 (DA7) (Veugelers et al., 2004). However clinicians and researchers do not believe trismus-pseudocamptodactyly syndrome is the explanation for the participant’s presentation, therefore research is still underway.
If this participant sounds like you or someone you know, please contact us!
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