Cornelia de Lange综合征|症状和原因
What are the symptoms of Cornelia de Lange syndrome?
Cornelia de Lange综合征会导致特定的面部特征，身体生长的减慢，认知问题和其他异常。症状可能包括：
- malformations of the hands and arms
- 小头畸形
- seizures
- 胃肠道问题，例如gastroesophageal reflux (GERD)
- 自闭症spectrum disorders
- 性器官不发达
- left裂
- heart defects
- failure of the testes to descend into the scrotum (cryptorchidism)
- high, arched eyebrows or eyebrows that meet in the midline
- widely spaced teeth or eyes
- hearing loss
- 头发生长过多
- 近视
- dental abnormalities
In温和的Cornelia de Lange综合征cases, some of the symptoms above may be less serious or even absent.
What causes Cornelia de Lange syndrome?
Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes（NIPBL，RAD21，SMC3，HDAC8和SMC1A）。条件的严重程度可能取决于突变的类型和受影响的基因。超过一半的CDL患者有突变NIPBL基因。这也与更严重的疾病有关。
Cornelia de Lange syndrome is rarely inherited. Rather, it usually happens sporadically, with no family history of the disease. This happens because ofde novo, or new, mutations.
这HDAC8和SMC1A在其中一种性染色体，特别是X染色体上发现基因。仅需要一个突变基因的副本来引起该疾病，并且会影响女性和雄性。这与许多其他X连锁疾病不同，在该疾病中，男性大多受到影响。这NIPBL,RAD21, andSMC3在常染色体或非性质染色体上发现基因，仅需一个突变基因的副本才能引起该疾病。
这five genes associated with CdLS produce proteins that are involved with development before birth. Specifically, the proteins are responsible for guiding the development of the face, limbs, and other parts the body.
Cornelia de Lange综合征|诊断和治疗
How is Cornelia de Lange syndrome diagnosed?
To diagnose CdLS, your doctor will review your child’s medical history and perform a physical examination. Your doctor may also order genetic testing to test for the specific mutations in the five genes associated with CdLS(NIPBL,RAD21,SMC3,HDAC8, andSMC1A)和other genes of interest.
How is Cornelia de Lange syndrome treated?
您孩子的医生可能会建议治疗胃肠道问题。胃食管反流（GERD）occurs when stomach acid flows back into the esophagus. Treatment for GERD varies by age but can include medication to reduce stomach acid or make the stomach empty faster. Your doctor may also recommend surgery in more severe cases or if the intestines are twisted. If nutritional needs are not being met, your doctor may prescribe supplemental formula or an intervention to deliver nutrition directly into the stomach.
Your doctor may prescribe medications to treatseizures。Hearing loss可以接受hearing aids或者cochlear implants。Your doctor may also recommend surgery or other treatments for heart defects or to improve mobility of the hands, arms, legs, or feet.
Your child may also need physical therapy, speech therapy, or occupational therapy to improve development and long-term prognosis. Your doctor may also suggest alternative methods of communication, such as sign language, if your child’s verbal skills are lacking.
How we care for Cornelia de Lange syndrome
这Cornelia de Lange综合征和相关疾病诊所at Boston Children’s Hospital is dedicated to the comprehensive care of children and adolescents who have CdLS or related conditions known as cohesinopathies.