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

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]

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

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]

• Developmental Delay

  Most also experience developmental delays that range from mild learning disabilities to profound intellectual disabilities. The syndrome takes its name from the Dutch pediatrician who was one of the first to formally describe it, in 1933. [chop.edu]

  Other possible symptoms may include growth and developmental delay. Intellectual disability, and disabilities relating especially to behavior and social conditions. Autistic tendencies are common for some individuals. [fdna.health]

  Some autopsy data have indicated cerebral dysgenesis, with a decreased number of neurons, neuronal heterotopias, and focal gyral folding abnormalities, as causes of psychomotor delay. [emedicine.medscape.com]

• Feeding Difficulties

  Anatomic abnormalities of the face and neck may cause difficulties during intubation. GI obstruction or feeding difficulties may occur. Early feeding management is important. Severe speech delay and poor communication are concerns. [emedicine.medscape.com]

(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]

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

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]

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]