Informazioni

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(potrebbe non essere presente per ogni persona con sindrome di Cornelia de Lange)

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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