Female, age 29, with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia) caused by a variant in the BCL11B gene.
Jun 04, 2026
At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development as well as intellectual disability.
At age 7, heart abnormalities (mitral valve prolapse with regurgitation) were identified and, at age 9, the participant was noted to have differences in her facial features (narrow mouth, high palate, upslanted eyes, widely set eyes). She also has a history of overactive thyroid (hyperthyroidism) and brittle bones (osteopenia).
At age 18, the participant had her gallbladder removed through a cholecystectomy procedure, and now has fatty liver disease.
In 2022, the participant began experiencing seizures, which seem to intensify the pain in her joints and her headaches. She underwent an EEG which was normal. She was also diagnosed with cyclic vomiting syndrome, a nerve abnormality (acute cutaneous nerve entrapment syndrome), inflammation of the kidneys (membranous glomerulonephritis), delayed stomach emptying (gastroparesis), and inflammation of the throat (eosinophilic esophagitis).
Clinicians and researchers have identified a de novo genetic change in the BCL11B gene as the primary cause of the participant’s symptoms. The genetic change in the EBF2 gene may also be contributing to her symptoms but the current significance is unclear.
If this participant sounds like you or someone you know, please contact us!
