Aniridia-ptosis-intellectual disability-familial obesity syndrome

Classification according to ICD-10
Q13.1	Lack of iris (congenital) Aniridia
ICD-10 online (WHO version 2019)

The aniridia-ptosis-intellectual disability-familial obesity syndrome is a very rare congenital disease with the main characteristics that give it its name.

The first description comes from 1986 by the US ophthalmologists Nancy A. Hamming, Marilyn T. Miller and Maurice Rabb.

distribution

The frequency is given as less than 1 in 1,000,000, so far only one family has been described. The inheritance is autosomal dominant .

Clinical manifestations

Clinical criteria are:

Manifestation in childhood
Ocular abnormalities: partial or complete aniridia , ptosis , pendular , pannus of the cornea , persistent pupillary membrane, lens opacity , fovea - hypoplasia , reduced visual acuity
Obesity
Mental disability
Alopecia
Heart defect

Individual evidence

↑ ^a ^b ^c aniridia-ptosis-intellectual disability-familial obesity-syndrome. In: Orphanet (Rare Disease Database).
^ NA Hamming, MT Miller, M. Rabb: Unusual variant of familial aniridia. In: Journal of pediatric ophthalmology and strabismus. Volume 23, Number 4, 1986 Jul-Aug, pp. 195-200, PMID 3091805 .

Web links

Rare Diseases

[Orpha-1] aniridia-ptosis-intellectual disability-familial obesity-syndrome. In: Orphanet (Rare Disease Database).

[2] NA Hamming, MT Miller, M. Rabb: Unusual variant of familial aniridia. In: Journal of pediatric ophthalmology and strabismus. Volume 23, Number 4, 1986 Jul-Aug, pp. 195-200, PMID 3091805 .