Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa

Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

609047

Mode of Inheritance

Autosomal recessive

Description

Skeletal dysplasia, rhizomelic, with retinitis pigmentosa is a very rare genetic disorder of the bones and retina described only in a Lebanese girl. The abnormalities associated with this disorder include pre- and post- natal short stature with rhizomelic limb shortening, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, bilateral subluxation of the hips, and advanced maturation of the epiphyses. Intellectual development appears to be normal.

Molecular Genetics

It is suggested that rhizomelic skeletal dysplasia with retinitis pigmentosa is transmitted as an autosomal recessive trait since the described patient had consanguineous parents.

Epidemiology in the Arab World

View Map

Other Reports

Lebanon

Megarbane et al. (2004) described a girl who had a collection of abnormalities never described before including advanced bone age and bilateral hip dislocation. 

© CAGS 2024. All rights reserved.