GenodermatosesX-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 | | | | |
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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
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)
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