Leprechaunism syndrome E34.8

Donohue, 1948

Autosomal recessive complex malformation syndrome with anomaly of the female external genitals, exophthalmos (frequent), failure to thrive (very frequent), gynecomastia (very frequent), hyperglycaemia/non-insulin-dependent diabetes mellitus (very frequent), hyperinsulinism (very frequent), susceptibility to infection (very frequent), macropenis, Short stature, large/protruding nostrils, large/long ears, small face (faun-face), severe mental retardation, full/thick lips, excess neck skin, hypertrichosis, sunken nasal root, testicular ectopy/cryptorchidism, microcephaly, umbilical hernia, high/narrow palate, hypotonic/missing abdominal wall muscles.

Autosomal recessive mutations of the insulin receptor gene (INSR gene; gene locus: 19p13.2) with consecutive defects of the insulin receptor.

Acanthosis nigricans benigna; Acanthosis nigricans maligna; Pfaundler-Hurler disease; Scheie disease; Lawrence syndrome.

Often lethal.