Cornelia de Lange syndrome(English)

• a rare and clinically variable disorder that affects multiple organs (MIM #122470, 300590, 610759, 614701, 300882), characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [NIPBL, SMC1A, SMC3, RAD21 and HDAC8] have been associated with this syndrome and mutations of these genes comprise the underlying defect in 70% of the patients
• GERD, HDAC8, NIPBL, SMC1A, SMC3, RAD21
• Congenital disorders, Gastroenterology, Disability
• https://doi.org….1111/cge.12499