CHIME syndrome

CHIME syndrome is a rare condition that affects several parts of the body, including the eyes, heart, skin, and brain. It is classified as an ectodermal dysplasia because it involves tissues that develop from the ectoderm, the outer layer in early embryonic life. The defining features of this syndrome are eye abnormalities called colobomas, heart defects, skin changes that resemble ichthyosis, intellectual disability, hearing loss, and epilepsy. People with CHIME syndrome may experience a variety of symptoms that vary from one person to another. The condition is complex due to the involvement of multiple organ systems, which can make understanding and managing the syndrome challenging.

Common signs and symptoms include ocular colobomas (eye defects), congenital heart defects, skin issues described as ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy. These symptoms may differ in severity among people with the condition.

CHIME syndrome is caused by mutations in the PIGL gene, which leads to problems with the development of tissues derived from the ectoderm. The genetic changes disrupt normal functions in several body systems, which is why the syndrome presents with multiple features. Detailed genetic risk factors and inheritance patterns were not specified in the provided information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.