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

Definicija

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.

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Pun naziv

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

Kratki naziv

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Sinonimi

NULL

Orpha broj

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

NULL

Nasleđivanje

Unknown

Period početka bolesti

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ICD 10

OMIM

UMLS

GARD

MEDDRA

Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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