What chromosomal disorder is associated with cafe-au-lait spots and Lisch nodules?

The chromosomal disorder associated with café-au-lait spots and Lisch nodules is Neurofibromatosis type I. This condition is an autosomal dominant genetic disorder caused by mutations in the NF1 gene located on chromosome 17. One of the hallmark features of Neurofibromatosis type I is the development of café-au-lait macules, which are light brown skin patches that are typically present from childhood.

In addition to café-au-lait spots, individuals with Neurofibromatosis type I often develop Lisch nodules, which are benign iris hamartomas that appear as small, pigmented growths on the iris and are detectable during an eye examination. The presence of these features, along with other potential findings such as neurofibromas, optic nerve gliomas, and a predisposition to other tumors, helps clinicians diagnose the condition.

The other disorders mentioned in the options do not characterize these specific findings. Down syndrome is primarily associated with congenital heart defects, hypotonia, and characteristic facial features. Turner syndrome, which occurs in females due to the complete or partial absence of one X chromosome, is associated with short stature and physical anomalies like webbed neck and ovarian dysgenesis. Williams syndrome involves cardiovascular issues,