Hereditary bullous dystrophy, macular type

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Hereditary bullous dystrophy, macular type

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: // Data version September 2023.

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