Hereditary bullous dystrophy, macular type

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A rare X-linked syndromic intellectual disability characterized by intellectual deficit microcephaly short stature and ectodermal anomalies (including alopecia spontaneous formation of bullae without evident trauma hyper- or hypopigmented maculae acrocyanosis and dystrophic nails) in male patients. Additional reported features are short tapering fingers ocular anomalies (such as corneal opacities and cataract) and hypogenitalism. 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 July 2024

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Hereditary bullous dystrophy, macular type?

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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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