Cornelia De Lange Syndrome News and Research

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Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.

Cornelia de Lange syndrome is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, abnormalities involving the arms and hands, and distinctive facial features. The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.

Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hirsutism), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, eye problems, and skeletal abnormalities also have been reported in people with this condition.
Severe cortical damage associated with COVID-19 case report

Severe cortical damage associated with COVID-19 case report

Persistent DNA damage in the placenta can affect embryonic growth

Persistent DNA damage in the placenta can affect embryonic growth

DNA discovery could help point towards causes of developmental condition in children

DNA discovery could help point towards causes of developmental condition in children

New zebrafish study provides insights into causes of congenital heart defects

New zebrafish study provides insights into causes of congenital heart defects

Novel Cornelia de Lange syndrome gene discovered

Novel Cornelia de Lange syndrome gene discovered

Researchers identify new gene in Cornelia deLange syndrome

Researchers identify new gene in Cornelia deLange syndrome

HDAC8 gene mutations cause Cornelia deLange syndrome

HDAC8 gene mutations cause Cornelia deLange syndrome

Researchers uncover insights into rare genetic disorders

Researchers uncover insights into rare genetic disorders

Researchers identify new functions of cohesin SA1 that are relevant for cancer and CdLS

Researchers identify new functions of cohesin SA1 that are relevant for cancer and CdLS

Deficiencies in DNA loop formation can cause multiple diseases: Research

Deficiencies in DNA loop formation can cause multiple diseases: Research

Study: Common underlying mechanism causes complex defects in brain development and function

Study: Common underlying mechanism causes complex defects in brain development and function

Cohesin protein disrupts gene function in Cornelia deLange syndrome

Cohesin protein disrupts gene function in Cornelia deLange syndrome

Gene found for Cornelia deLange syndrome

Gene found for Cornelia deLange syndrome

Cornelia de Lange syndrome gene discovered

Cornelia de Lange syndrome gene discovered

Discovery of the gene for Cornelia de Lange syndrome

Discovery of the gene for Cornelia de Lange syndrome