Cornelia de Lange syndrome
Synonyms: Brachmann-de Lange syndrome
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism hypertrichosis mild to profound intellectual disability intrauterine growth restriction (IUGR) and/or postnatal growth restriction feeding difficulties abnormalities of the hands and feet (ranging from severe reductional limb abnormalities oligodactyly to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.
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 April 2024
Newly diagnosed with
Cornelia de Lange syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Cornelia de Lange Syndrome Foundation
The CdLS Foundation mission is to be a family support organization that exists to ensure early and accurate diagnosis of the syndrome and help people with a diagnosis of CdLS, and other similar characteristics, make informed decisions throughout their lives. The CdLS Foundation’s purpose is to establish a community and enable advocacy for people experiencing CdLS and other isolating conditions.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.