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.
Codes
ICD10CM:
E34.8 – Other specified endocrine disorders
SNOMEDCT:
111307005 – Leprechaunism syndrome
E34.8 – Other specified endocrine disorders
SNOMEDCT:
111307005 – Leprechaunism syndrome
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Last Updated:01/18/2022
Leprechaunism syndrome