[2][3] While inclusion criteria for Rud syndrome have varied considerably, the major manifestations include congenital ichthyosis, hypogonadism, small stature, mental retardation, and epilepsy.

[4][5]: 502 [6]: 564  Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa.

Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.

[4] In 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis.

In 1929, he described a 29-year-old female with ichthyosis, hypogonadism, partial gigantism, and diabetes mellitus.