Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Synonyms: EXTL3-related neuro-immuno-skeletal dysplasia syndrome | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay variable intellectual disability skeletal dysplasia and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature anomalies of the long bones hands and feet and pelvis platyspondyly cervical malformation and pectus excavatum. Dysmorphic facial features such as coarse face hypertelorism and broad nasal tip may be present. Additional reported manifestations are seizures hyperreflexia nystagmus and muscular hypotonia as well as multiple liver cysts.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome?
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To improve our understanding of rare and understudied autoimmune conditions
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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