X-linked dominant chondrodysplasia punctata

• characterised by linear ichthyosis, chondrodysplasia punctata, short stature, cataract
  
  
• X-linked dominant inheritance - causative mutations have been identified in a large number of patients in the gene for emopamil binding protein (this gene is located on the short arm of Xp11.22-23 and also acts as a D8-D7 sterol isomerase which plays a crucial role in cholesterol biosynthesis)

Reference:

• (1) Eur J Dermatol (2000); 10 (6): 425-8.
• (2) Lambrecht C et al.Conradi-Hünermann-Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C).Pediatr Dermatol. 2014 Jun 11