[MIM*246200] A congenital form of dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears; autosomal recessive inheritance; caused by mutation in the insulin receptor gene (INSR) on 19p. SYN: Donohue disease, Donohue syndrome. [Irish leprechaun, elf]
