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Leprechaunism syndrome
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Leprechaunism syndrome

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Synopsis

An extremely rare genetic disorder causing severe deficiency of insulin resistance. Characterized by growth retardation and small stature, dysmorphic facies, lipoatrophy, hirsutism, enlarged genitalia, and muscular hypotrophy. Distinctive facial features include low-set ears, thick lips, hypertelorism, bulging eyes, and flaring nostrils. Treatment with recombinant insulin-like growth factor 1 (IGF1) can be considered, though life expectancy typically does not exceed 2 years.

For more information, see OMIM.

Codes

ICD10CM:
E34.8 – Other specified endocrine disorders

SNOMEDCT:
111307005 – Leprechaunism syndrome

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Last Updated: 03/29/2017
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Leprechaunism syndrome
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Leprechaunism syndrome : Failure to thrive, Flat nasal bridge, Hypertelorism, Hypotonia, Muscle atrophy, Present at birth, Short stature
Copyright © 2019 VisualDx®. All rights reserved.