/retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

Rare Disease

MONDO:0009983

Also Known As

retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndromeretinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndromeinsulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disabilityinsulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardationretinitis pigmentosa, deafness, intellectual disability, and hypogonadismretinitis pigmentosa, deafness, mental retardation, and hypogonadismretinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Definition

Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.