Genital abnormalities, myopia and hearing loss, and missing digits on the hand and feet may also present as symptoms. [fdna.health]

Discussed is the case of a 29 year old patient affected by the syndrome in question, which presents the principal clinical characteristics. The patient's general state of health is acceptable, without cardiac or respiratory alterations. [pubmed.ncbi.nlm.nih.gov]

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet. 2013 Apr 3. 14:41. [Medline]. [Full Text]. Gil-Rodriguez MC, Deardorff MA, Ansari M, et al. [emedicine.medscape.com]

Cornelia de Lange syndrome (CdLS) is a genetic condition present at birth. It’s characterized by numerous physical, intellectual and behavioral differences. [chop.edu]

Females that have a disease gene present on one of their X chromosomes are carriers for that disorder. [rarediseases.org]

(71%) Developmental delay and mental retardation Seizures (23%) with no specific electroencephalographic (EEG) pattern Behavioral manifestations - Including hyperactivity (40%), self-injury (44%), daily aggression (49%), and sleep disturbance (55%) Workup [emedicine.medscape.com]

After completing the necessary pre-operatory preparations, the entire odontological treatment was carried out under general aesthesia, due to the patient's total lack of collaboration. [pubmed.ncbi.nlm.nih.gov]

Other treatment is symptomatic and supportive. [rarediseases.org]

Prognosis Very few cases of adults with Cornelia de Lange syndrome have been reported in the literature. Two cohorts of adults, totaling 122 patients, have been studied. [emedicine.medscape.com]

Missense and inframe deletions in NIPBL and other genes were associated with 20% reduced expression and produced milder phenotypes. [13] Epidemiology Frequency The incidence is 1 case per 10,000-50,000 live births. [emedicine.medscape.com]

Surgery may be necessary for the following conditions: Cleft palate Nasal polyps Gastroesophageal reflux disease Pyloric stenosis Intestinal malrotation/volvulus Undescended testis Lacrimal duct stenosis Hip dislocations Pathophysiology More than 99% [emedicine.medscape.com]

Treatment with anticonvulsant medications may help prevent, reduce, or control seizures in some affected children. Early intervention is important in ensuring that children with CdLS reach their highest potential. [rarediseases.org]