Cornelia de Lange What to Know
Overview
Cornelia de Lange syndrome is a rare genetic condition that affects many parts of the body. Its main features include:
- Pre- and post-natal growth delays
- Intellectual disability
- Distinctive physical features including distinctive facial features
- Limb anomalies
Symptoms
The symptoms of Cornelia de Lange syndrome can vary from person to person, and may include:
- Pre- and postnatal growth delays. Babies and children with Cornelia de Lange syndrome may be born small for their gestational age (SGA) and have difficulty gaining weight and height. Growth may also slow down after birth, leading to short stature as an adult.
- Intellectual disability. Most people with Cornelia de Lange syndrome have some degree of intellectual disability, which can range from mild to severe. Learning difficulties may affect areas such as language, reasoning, problem-solving, and social skills.
- Distinctive facial features. People with Cornelia de Lange syndrome may have a characteristic set of facial features that include bushy, arched eyebrows; a long, thin nose with a downturned tip; and thin lips.
- Other physical features may include:
- Skin abnormalities
- Thin hair
- Hirsutism
- Limb anomalies such as short stature, club feet, curved pinky fingers
- Dental problems
- Heart problems
- Vision problems
- Hearing problems
Causes
The underlying genetic cause of Cornelia de Lange syndrome is mutations in the NIPBL (nipped-B-like) gene. The NIPBL protein plays a role in the normal development of many different parts of the body and has a key role in the formation and function of a cell's structure, the "cohesin ring." Mutations in NIPBL impair the function of this ring and lead to developmental abnormalities. In some cases, Cornelia de Lange syndrome is caused by mutations in other genes that also function in the process of forming and maintaining the cohesion ring, such as SMC1A, SMC3, BRD4 and RAD21.
Treatment
Treatment for Cornelia de Lange syndrome is based on the individual's symptoms. There is no cure for Cornelia de Lange syndrome, but early diagnosis and intervention can help improve outcomes and quality of life. Treatments may include:
- Early intervention services. Infants and toddlers with Cornelia de Lange syndrome may benefit from early intervention services such as speech therapy, physical therapy, and occupational therapy. These services can help children reach their full potential and develop skills that will support their independence and participation in family, school, and community life.
- Special education. Children with Cornelia de Lange syndrome may need special education services to help them learn and progress at their own pace. Special education services may include individualized instruction, small class sizes, and assistive technology.
- Medical care. People with Cornelia de Lange syndrome may also need medical care for their physical and medical conditions, such as heart problems, vision problems, or hearing problems.