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Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Disease definition
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.
ORPHA:88643
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: E03.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Professionals
- Anesthesia guidelines
- Czech (2017)
- English (2017)
- Español (2017)
- Guidance for genetic testing
- Français (2016, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.