X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare genetic disorder. It is mainly characterized by very small eyes (microphthalmia) with a gap or notch (coloboma) that can affect parts of the eye such as the iris, the ciliary body, the choroid, the retina, or the optic nerve. In addition, people with this condition also have a smaller head size (microcephaly), reduced height (short stature), and intellectual disability. Other eye issues like shaking eyes (pendular nystagmus), inward turning of the eyes (esotropia), and drooping eyelids (ptosis) may be seen. Additional features include spine curvature (kyphoscoliosis), unusual ear shape with less complex folds, spacing issues in the teeth (diastema), and congenital foot differences. These various signs are part of a complex pattern that defines this condition.

People with this condition can show eye abnormalities, such as microphthalmia with coloboma, pendular nystagmus, esotropia, and ptosis. They may also have a small head, short stature, and intellectual disability. Other physical features can include kyphoscoliosis, atypical ear shape, spacing between teeth, and differences in the feet such as congenital pes varus.

This condition is linked to genetic changes on the X chromosome. A known gene in this condition is HMGB3. The fact that this disorder is inherited in an X-linked pattern explains why the genetic changes affect development, including eye formation, brain size, and overall growth.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.