X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability growth retardation hypotonia cerebellar symptoms such as ataxia spondyloepiphyseal dysplasia and dysmorphic craniofacial features (including microcephaly dolichocephaly prominent ears epicanthus broad nasal bridge long and flat philtrum or small mouth). Additional reported manifestations are epilepsy retinitis pigmentosa and urogenital abnormalities among others. Brain imaging may show cerebellar hypoplasia.
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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X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia 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.
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.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.