[Ondine syndrome or central congenital hypoventilation syndrome].
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200,000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
Centre de Référence du Syndrome d'Ondine, Hôpital Robert Debré, Paris. ha.trang@rdb.aphp.fr
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D005799:Genes, Dominant; D006627:Hirschsprung Disease / Q000150:complications; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011379:Prognosis; D012121:Respiration, Artificial; D020182:Sleep Apnea, Central / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors