Overview for professionals

Generic Health Care Information about Cornelia de Lange Syndrome (cdls) for Professionals

(might not be present by each person with Cornelia de Lange Syndrome)

Main medical problems in cdls

  • Statura parva - Small length, Short stature
  • Microcephaly - Small head circumference
  • Problema alimentationis a longo tempore - Feeding problems
  • Tarditas developmentis - Intellectual disability, Developmental delay
  • Dysphasia - Language-speech development disorder
  • Automutilatio corporis - Self-Injurious Behaviour, Self-injury
  • Gastroesophageal reflux - Stomach acid reflux from stomach to oesophagus
  • Obstipation / Constipation - Blockage
  • Brachydactylie - Small hands, missing fingers to absent fingers
  • Auditus deficit - Hearing loss
  • Ptosis - Drooping eyelid
  • Cryptorchidism - Undescended testicles
  • Cutis marmorata, Hirsutism - Marbled skin, excessive hair growth

Acute life-threatening complications in cdls

  • Volvulus -  Bowel obstruction by intestine twists
  • Pneumonia per Aspirationem - Aspiration pneumonia
  • Morbus epilepticus - Epileptic Seizures
  • Morbus cardiacus - Cardiac problems
  • Cystitis - Bladder infections
  • Ablatio Retinae - Retinal detachment
  • Periculum anesthetici ex angustiis viis respiratoriis - Small airways (anaesthesia risk)

Less frequent medical problems in cdls

  • Ventricular septal defect, pulmonary stenosis - Heart malformations
  • Hernia diaphragmatica - Hole or weakness in the diaphragm
  • Morbus epilepticus - Epileptic Seizures
  • Anomalies Gastrointestinales Congenitae - Gastrointestinal disorders
  • Luxatio Coxae - hip dislocations
  • Scoliosis - Abnormal sideways curvature of the spine
  • Eesophagi Barrettii - Barrett esophagus
  • Malformationes renales - Kidney problems
  • Morbi Immunologici - Immunological problems
  • Anomalia Dentium - Dental issues or abnormalities
  • Nystagmus, strabismus - Eye abormalities
  • Schisis palati - Cleft palate



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