Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Synonyms: CLIFAHDD syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face hypotonia neonatal respiratory distress and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures broad nasal bridge large nares long philtrum and deep nasolabial folds among others. Limb deformities (camptodactyly clubfoot) short neck scoliosis as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.
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
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Congenital limbs-face contractures-hypotonia-developmental delay syndrome?
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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
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.