Cerebrofacioarticular syndrome
Synonyms: Van Maldergem syndrome
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability a distinctive facial gestalt (blepharophimosis maxillary hypoplasia telecanthus microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers cutaneous syndactyly talipes equinovarus flexion contractures of the proximal interphalangeal joints hip or elbow subluxation joint laxity). Affected individuals also present neonatal hypotonia variable respiratory manifestations chronic feeding difficulties and gray matter heterotopia.
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
Cerebrofacioarticular 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.