Orphanet: Hereditary bullous dystrophy, macular type
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Hereditary bullous dystrophy, macular type

Disease definition

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.

ORPHA:1867

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q81.8
  • OMIM: 302000
  • UMLS: C0795974
  • MeSH: -
  • GARD: 1038
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2021) Français (2021) Nederlands (2021)

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