Male, age 24, with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot), and global developmental delay caused by a variant in RNF13.
Nov 19, 2019
The participant was born after a normal and uncomplicated pregnancy. At birth, his left foot was rotated and his right hip was dislocated. At 6 months old, he was noted to have a small head size (microcephaly), low muscle tone (hypotonia), and some facial differences. He was also not reaching his developmental milestones as expected. Around 1 year, the participant was found to have seizures.
At age 14, the participant was diagnosed with an immune deficiency and Hodgkin’s lymphoma, which is now in remission.
The participant also has some skeletal differences such as a sunken chest (pectus excavatum), abnormal wrist bones (Madelung deformity), and increased curvature of the spine (scoliosis). He had surgery for his scoliosis as well as a total hip replacement. The participant has impaired language development and intellectual disability. He is able to walk independently; however, he is unsteady and often uses a wheelchair.
He attended a public school with an individual education plan (IEP) and graduated at 21. In public school, he worked on life skills for after graduation. He currently lives with a family who provide home care for him and he also attends a day program for 30 hours every week. Currently he is enrolled in a reading class and enjoys buying gifts for people, visiting others who need encouragement, crafting, going to the gym, and attending church. He helps take care of the dogs he lives with and loves playing with children. He is very happy and loves telling jokes.
In 2019, clinicians and researchers identified the following de novo genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
