Synonyms: Lipodystrophy-intellectual disability-hearing loss syndrome | Rajab-Spranger syndrome
A rare form of genetic lipodystrophy reported in 3 patients from one family to date characterized by generalized congenital lipodystrophy low birth weight progressive sensorineural deafness occurring in childhood intellectual deficit progressive osteopenia delayed skeletal maturation skeletal abnormalities described as slender undermineralized tubular bones and dense metaphyseal striations in the distal femur ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
Newly diagnosed with
Lipodystrophy-intellectual disability-deafness syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.