General Information About Cornelia de Lange Syndrome
Disease Details and Frequently Asked Questions
It is a genetic (hereditary) syndrome that begins in the womb, affecting physical development, intellectual capacity, and physical appearance.
Thin, arched eyebrows that meet in the middle (synophrys), long eyelashes, a small and upturned nose, thin lips, and downturned corners of the mouth are the most prominent physical findings.
Low birth weight, growth retardation, missing fingers or shortness in the hands and arms, congenital heart defects, feeding difficulties, and excessive body hair (hirsutism).
The vast majority of patients exhibit mild to severe intellectual disability and severe speech impairments. They may also display autism-like behaviors.
The child's typical facial appearance and clinical findings raise the physician's suspicion. A definitive diagnosis is established through genetic testing that looks for mutations in the NIPBL gene or other related genes causing the syndrome.
Because it is a genetic disorder, there is no definitive cure. The aim of the treatment is to improve the quality of life; nutritional support, physical therapy, speech therapy, and medical interventions for heart/intestinal issues are implemented.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
