Facial features indicative of<unk>  include protuberant and low-set ears, flaring nostrils, unusually large mouth, thick lips, and widely spaced eyes. Physical features include stunted growth (including during gestation), lack of subcutaneous adipose tissue, muscle atrophy, hirsutism (excessive body hair growth), and dysplasia (nail malformation). Additionally, a condition known as acanthosis nigricans is present in affected individuals. In acanthosis nigricans, patches of skin darken and thicken to gain a velvet-like appearance. Gender specific features also include enlarged clitoris and breasts, as well as ovarian cysts in affected females, and enlarged penis in affected males. In the Journal of Pediatric Medicine,<unk>  and Uchida described affected sisters whose growth appeared to have ended in the seventh month of gestation, both born alive but dying before four months of age. Very early death (or spontaneous abortion) is the norm, although sufferers sometimes live longer than a decade. Endocrine related abnormalities as a result of insulin receptor malfunction include insulin resistance, hypoglycemia and hyperglycemia (depending on whether or not the individual has eaten) and hyperinsulemia. A much milder form of the disease, in which there is some insulin resistance but normal growth and subcutaneous fat distribution, is also known. It is caused by a less severe mutation of the same gene.
Donohue syndrome
Nance–Horan syndrome
Eagle syndrome
Reynolds syndrome
Seaver Cassidy syndrome
Dorian Gray syndrome
Horner's syndrome
Corneal-cerebellar syndrome