Aug 13, 2020
The participant was born with absent shoulder muscles (congenital bilateral absence of deltoid muscles), bilaterally underdeveloped bicep tendons, umbilical and inguinal hernias, and undescended testes (bilateral cryptorchidism), some of which were fixed with surgeries. Developmental delay was noted at 6 months old with delayed milestones. He had an IEP in classes for his learning difficulties and he has graduated high school. Some additional symptoms include: recurrent joint dislocations (jaw, metacarpophalangeal joints), facial differences, skeletal abnormalities, joint hypermobility, and hypogonadism.
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.