Diagnostic Test for Cornelia de Lange Syndrome (CdLS)


Identify Patients and Carriers of CdLS


Market Need


The Cornelia de Lange syndrome (CdLS) is a dominantly inherited multisystem developmental disorder that includes growth and cognitive retardation, upper extremity abnormalities, gastroesophageal dysfunction, cardiac ophthalmologic genitourinary anomalies, hirsutism and characteristic facial features. Many patients also demonstrate autistic behavior, including self-injurious tendencies. Prevalence is estimated to be as high as 1 in 10,000. Diagnosis and counseling for CdLS has been complicated by phenotypic variability and lack of a definitive diagnostic marker.


Technology Overview


Dr. Ian Krantz and his team discovered IDN3 as the causal gene responsible for CdLS, allowing a molecular diagnostic marker to be available to identify patients and carriers of this disease. Mutational analysis of the IDN3 gene will allow confirmation of diagnosis, identification of carriers amongst relatives of an affected individual and allow for genetic counseling about recurrence risks and prenatal diagnosis.



•       Only genetic, diagnostic test to identify CdLS patients and carriers


•       This diagnostic test can be used by genetic counseling services for prenatal diagnosis and confirmation of diagnosis of affected patients


Stage of Development: In vivo clinical proof-of-concept in 20 individuals.


Case ID:
Web Published:
Patent Information:
Title Country Serial No. Patent No. File Date Issued Date
Methods and Compositions for the Diagnosis of Cornelia de Lange Syndrome United States 11/120,925 7,629,122 5/3/2005 12/8/2009
For Information, Contact:
Camille Jolly-Tornetta
Assistant Director
The Children's Hospital of Philadelphia
Ian Krantz
Cornelia de Lange Syndrome (CdLS)