After irregular freckles lead to 4-year-old Jax’s NF1 diagnosis, more than a dozen CHOC specialists teamed up to treat her.
Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.
His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.
An upcoming CHOC conference will help teens with medically complex connective tissue disorders and their parents learn about their diagnoses.
Individuals with a trisomy have an extra chromosome in some or all of their cells, which affects development.
A CHOC geneticist discusses neurofibromatosis type 1 (NF1), including what parents can look for and how it’s treated.
Dr. Neda Zadeh, a CHOC geneticist, share how parents may prevent birth defects, and prenatal tests available to screen for birth defects.