Content

»Diseases of the Hair and Nails
»Menkes Disease
»Monilethrix
»Trichorhinophalangeal Syndrome
»Uncombable Hair Syndrome
»Tricho-dento-osseous Syndrome
»Björnstad Syndrome
»Papular Atrichia
»Nail–Patella Syndrome
»Pachyonychia Congenita
»Disorders of Cornification
»Ichthyosis Vulgaris (IV)
»X-linked Ichthyosis (XLI)
»Lamellar Ichthyosis
»Congenital Ichthyosiform Erythroderma
»Ichthyosis Bullosa of Siemens
»Epidermolytic Hyperkeratosis
»Harlequin Ichthyosis
»Netherton Syndrome
»Sjögren–Larsson Syndrome
»CHILD Syndrome
»Conradi–Hünermann–Happle Syndrome
»Chondrodysplasia Punctata
»Rhizomelic Chondrodysplasia Punctata
»KID Syndrome
»Refsum Disease
»Darier Disease
»Other Conditions
»Palmoplantar Keratodermas
»Ectodermal Dysplasias
»Metabolic and Enzyme Deficiency Diseases
»Signs of Spinal Dysraphism
»Keratinopathies
»References

 
 
 

Trichorhinophalangeal Syndrome

  • AR/AD, TRPS1 gene
  • Sparse hair, pear-shaped nose, cone-shaped epiphyses
   
 
TrichoRhinoPhalangeal (TRP) –think of TRiPping so many times that your nose becomes pear-shaped
 
   

 
 
 
 

 

 

 

 

 

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