Say-Barber-Miller syndrome
Synonyms: Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly developmental delay and intellectual disability postnatal growth retardation dysmorphic craniofacial features (including sloping forehead beaked nose large and protruding ears micrognathia high-arched palate and craniosynostosis) immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.
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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Say-Barber-Miller 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.