Disease or Syndrome
Donohue syndrome
Subclass of:
Multiple congenital anomalies;
Craniofacial Abnormalities;
Genetic Diseases, Inborn;
Diabetes Mellitus
Definitions related to donohue syndrome:
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A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia.NCI ThesaurusU.S. National Cancer Institute, 2021
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An autosomal recessive condition caused by mutation(s) in the INSR gene encoding the insulin receptor, and characterized by the following: insulin resistance; prenatal growth restriction and small for gestational age birth; small, elfin-like facies with protuberant ears; postnatal failure to thrive; relatively large hands, feet, and genitalia; muscle atrophy; and hypertrichosis. The condition is typically diagnosed early in life, with death usually occurring before age two years. The symptoms and course of this syndrome are the most severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigerians and Hyperandrogenism and Rapson-Mendenhall Syndrome.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and � in the second decade � microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.GeneReviewsUniversity of Washington, 2021
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Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the...National Center for Advancing Translational Sciences
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