Cornelia de Lange syndrome

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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 June 2024

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Cornelia de Lange syndrome?

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Advocacy Organizations

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.

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.

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Clinical Trials

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