Marfanoid habitus-autosomal recessive intellectual disability syndrome

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Synonyms: Fragoso-Cantú syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability psychomotor retardation flat face and some features resembling Marfan syndrome such as tall stature dolichostenomelia arm span larger than height arachnodactyly of hands and feet little subcutaneous fat and muscle hypotonia. There have been no further descriptions in the literature since 1984.

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 July 2024

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Marfanoid habitus-autosomal recessive intellectual disability syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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