Arachnodactyly-intellectual disability-dysmorphism syndrome
Synonyms: De Die-Smulders-Vles-Fryns syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly long narrow triangular face prominent forehead hypertelorism flat philtrum microstomia thin lips hypoplastic maxilla) marfanoid habitus with arachnodactyly and moderate to severe intellectual disability. Additional features may include clinodactyly triphalangeal thumbs hammer-shaped toes hyperextensible joints hypotonia hyperreflexia and underdeveloped musculature. Delayed external genitalia development as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.
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 September 2023.
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Arachnodactyly-intellectual disability-dysmorphism 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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
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.
Clinical Trials
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