Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

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Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity congenital hypothyroidism neonatal colitis cardiac hypertrophy craniosynostosis and developmental delay. It has been described in two brothers one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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