Federal government websites often end in. Before sharing sensitive information, make sure you're on a federal government site. The site is secure. NCBI Bookshelf. Cornelia de Lange syndrome CdLS encompasses a spectrum of findings from mild to severe. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Many individuals demonstrate autistic and self-destructive tendencies.
Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
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Treatment of manifestations: Aggressive management of gastroesophageal reflux with assessment of potential gastrointestinal malrotation; consideration of fundoplication if reflux is severe. Physical, occupational, and speech therapy to optimize psychomotor development and communication skills. If surgery is being considered, malignant hyperthermia precautions and preoperative evaluation for thrombocytopenia and cardiac disease with careful monitoring of the airway during anesthesia are recommended.
Surveillance: At each visit: measurement of growth parameters and evaluation of nutritional status and safety of oral intake; monitor for signs and symptoms of GERD and for evidence of aspiration with respiratory insufficiency; assessment for new manifestations such as seizures or signs of autonomic dysfunction; monitor developmental progress and educational needs; behavioral assessment for anxiety, attention, and aggressive or self-injurious behavior; assessment of mobility and self-help skills.
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At least annually: ophthalmology evaluation; dental evaluation with cleaning; audiology evaluation in childhood and adolescence. When the parents are clinically unaffected, the risk to the sibs of a proband with CdLS is estimated to be 1. The risk to sibs of a male proband with X-linked CdLS depends on the status of the proband's mother; the risk to sibs of a female proband with X-linked CdLS depends on the status of the proband's mother and father.
