Genodermatoses

X-Linked Recessive
  • C: Chronic Granulomatous Disease
  • H: Hunter Disease
  • A: Anhidrotic (Hypohidrotic) Ectodermal Dysplasia (Christ-Siemens-Touraine)
  •    
     Of note, type IX EDS (occipital horn syndrome) is NOT part of the revised EDS classification (since it is NOT due to a collagen defect) and type V is classified as “other” in EDS classification 
       
    D: Dyskeratosis Congenita
  • S: SCID
  • Kinky: Kinky Hair Disease (Menkes Disease)
  • W: Wiskott–Aldrich Syndrome
  • I: Ichthyosis, X-linked
  • F: Fabry Disease
  • E: Ehlers–Danlos Syndrome (type V and IX)
  • C: Chondrodysplasia Punctata (not Conradi–Hünermann type)
  • H: Hypohidrotic ED with Immunodeficiency
  • A: Agammaglobulinemia, Bruton
  • N: Lesch-Nyhan Syndrome
   
 BIG ChOMP 
   
X-Linked Dominant
  • B: Bazex Syndrome (do not confuse with acrokeratosis paraneoplastica {Bazex syndrome})
  • I: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
  • G: Goltz Syndrome (Focal Dermal Hypoplasia)
  • C: CHILD Syndrome
  • h: –
  • O: Oro-Facial-Digital Syndrome
  • M: MIDAS Syndrome (micrognathia, dermal aplasia, sclerocornea)
  • P: Chondrodysplasia Punctata (Conradi–Hünermann type)