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Severity and complications of CCHS, by PHOX2B genotype

Phenotype	Proportion of CCHS patients affected n (%)
Phenotype	PARM	NPARM
Continuous ventilatory support	111/314 (35%)	38/57 (67%)
Hirschsprung disease*	95/493 (19%)	53/66 (80%)
Neural crest tumor^¶	4/344 (1%)	11/27 (41%)

Phenotype of congenital central hypoventilation syndrome (CCHS) with paired-like homeobox 2B gene (PHOX2B) polyalanine repeat expansion mutations (PARMs), compared with those with PHOX2B nonpolyalanine repeat expansion mutations (NPARMs). These data represent all known cases of CCHS reported in the world literature as of 2010.

* Based on a subsequent study, the prevalence of Hirschsprung disease in patients with PARM genotypes may be higher than 19%.^[1] Refer to UpToDate topic review on CCHS for more information.
¶ Information on neural crest tumors was derived from cases in which the child had survived at least the first year of life. All PARM cases with tumors had large (29 to 33 repeat) PARMs.

Data from: Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med 2010; 181:626.

Reference:

Balakrishnan K, Perez IA, Keens TG, et al. Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS. Eur J Pediatr 2021; 180:469.

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