Cornelia de Lange Syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and associated signs and symptoms can vary widely but can include facial features, growth retardation, intellectual disability, and limb deformities.
About 60% of people with CdLS have variations (mutations) in the NIPBL gene that causes this disease, and about 10% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8, and RAD21. In the remaining 30% of cases, the underlying genetic cause of the disease is unknown. You can get detailed information about Cornelia de Lange Syndrome via https://hopeforvihaan.org/.
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CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience:
1) Slowed growth before and after birth;
2) Intellectual disability;
3) Developmental delay;
4) Autistic and/or self-destructive behaviors;
5) Skeletal abnormalities of the arms and hands;
6) Gastrointestinal problems;
7) Hirsutism (excess hair growth);
8) Hearing loss;
10) Congenital heart defects;
11) Genital abnormalities (i.e. cryptorchidism);