Cornelia de lange syndrome
Cornelia de Lange Syndrome (pronunciation: kor-NEE-lee-uh duh LAHNG) is a rare genetic disorder that affects the physical and intellectual development of a child.
Etymology
The syndrome is named after the Dutch pediatrician, Cornelia de Lange, who first described it in 1933.
Definition
Cornelia de Lange Syndrome (CdLS) is a developmental disorder that presents a range of physical, cognitive and medical challenges. It is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Symptoms
The symptoms of Cornelia de Lange Syndrome can vary widely among individuals. Some common symptoms include:
- Microcephaly (small head size)
- Synophrys (eyebrows that meet in the middle)
- Micrognathia (small lower jaw)
- Hirsutism (excessive body hair)
- Cleft palate
- Cryptorchidism (undescended testes in males)
- Heart defects
- Gastroesophageal reflux disease (GERD)
- Hearing loss
- Vision problems
Causes
Cornelia de Lange Syndrome is caused by mutations in the NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes provide instructions for making proteins that help control the structure and organization of DNA within cells.
Diagnosis
Diagnosis of Cornelia de Lange Syndrome is based on physical features and symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is no cure for Cornelia de Lange Syndrome. Treatment is supportive and based on the individual's specific symptoms. This may include physical therapy, speech therapy, educational services, and other interventions to help improve quality of life.
See also
External links
- Medical encyclopedia article on Cornelia de lange syndrome
- Wikipedia's article - Cornelia de lange syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski