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congenital central hypoventilation syndrome

MeSH: C536209ORPHA: 661

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with congenital central hypoventilation syndrome, sourced from HPO and Orphanet clinical annotations.

SeizureHypotoniaRespiratory insufficiencyAganglionic megacolonAbnormality of the autonomic nervous systemGanglioneuromaNeuroblastomaGanglioneuroblastomaNeoplasm of the central nervous systemCognitive impairment

Classification & Codes

MeSH Code

C536209

Orphanet Code

ORPHA:661
congenital central hypoventilation syndrome
MeSHC536209
OrphanetORPHA:661
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO