Arachnodactyly-intellectual disability-dysmorphism syndrome

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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 June 2024

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