Citation on PubMed or Free article on PubMed Central Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB.Ītypical presentations associated with non-polyalanine repeat PHOX2B mutations.Īm J Med Genet A.Three-Generationįamily With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Kasi AS, Jurgensen TJ, Yen S, Kun SS, Keens TG, Perez IA.Structural and functional differences in PHOX2Bįrameshift mutations underlie isolated or syndromic congenital central Di Lascio S, Benfante R, Di Zanni E, Cardani S, Adamo A, Fornasari D,Ĭeccherini I, Bachetti T.Hypoventilation syndrome: PHOX2B mutations and phenotype. Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE.PHOX2B mutation-confirmedĬongenital central hypoventilation syndrome: presentation in adulthood. Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W,.In CCHS, life expectancy and the extent of any intellectual disabilities depend on the severity of the disorder, timing of the diagnosis, and the success of treatment. People with CCHS, especially children, may have a characteristic appearance with a short, wide, somewhat flattened face often described as "box-shaped." People with CCHS are also at increased risk of developing certain tumors of the nervous system called neuroblastomas, ganglioneuromas, and ganglioneuroblastomas.Īdditionally, individuals with CCHS usually have eye abnormalities, including a decreased response of the pupils to light. (Some researchers refer to the combination of CCHS and Hirschsprung disease as Haddad syndrome.) Some affected individuals develop learning difficulties or other neurological problems. About 20 percent of people with CCHS have abnormalities in the nerves that control the digestive tract ( Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. People with CCHS may have additional problems affecting the nervous system. They also have decreased perception of pain, low body temperature, and occasional episodes of heavy sweating. In addition to the breathing problem, people with CCHS may have difficulty regulating their heart rate and blood pressure, for example, in response to exercise or changes in body position. In some milder cases, CCHS may not become apparent until later in life. In these infants, a lack of oxygen in the blood often causes a bluish appearance of the skin or lips (cyanosis). Symptoms of CCHS usually become apparent shortly after birth when affected infants hypoventilate upon falling asleep. Some affected individuals need this support 24 hours a day, while others need it only at night. They must be supported with a machine to help them breathe (mechanical ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). This nervous system reaction is impaired in people with CCHS. Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Please see Conroe ISD - Code of Conduct.Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing. In accordance with Education Code 37.105 and District’s Code of Conduct, the District has the right to refuse entry to or eject a person from property under the District's control if the person refuses to leave peaceably upon request. The District is required by Title VI and Title VII of the Civil Rights Act of 1964, as amended, Title IX of the Education Amendments of 1972, the Age Discrimination Act of 1975, as amended, Section 504 of the Rehabilitation Act of 1973, the Americans with Disabilities Act, as well as Board policy not to discriminate in such a manner. For information about Title IX rights or Section 504/ADA rights, contact the Title IX coordinator or the Section 504/ADA coordinator. The Conroe Independent School District (District) is an equal opportunity educational provider and employer does not discriminate on the basis of race, color, national origin, sex, religion, age, or disability in educational programs or activities that it operates or in employment matters.
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