Oversigt for professionelle
Generisk sundhedsinformation om Cornelia de Lange syndrom (cdls) til fagfolk
(er måske ikke til stede hos hver person med Cornelia de Lange syndrom)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
