[MIM 611 816]

Very rare. Often spontaneous heterozygous mutation in the KCNH1 gene on 1q32.

Association of:

-        severe mental retardation with hypotonia; epilepsy is often associated

-        abnormalities of the first ray of upper and lower limbs (wide or elongate thumbs and big toes, tubular aspect) with hypoplasia or absence of nails

-        facial dysmorphism: flat forehead, hypertelorism, broad nasal root, long philtrum, epicanthus, wide mouth

Anesthetic implications:

mental retardation, epilepsy, hypotonia

References : 

• Gabbett MT, Clark RC, McGaughran JM. 
  A second case of severe mental retardation ad absent nails of hallux and pollex (Temple-Baraitser syndrome). 
  Am  J Med Genet Part A 2008; 146A: 450-2
• Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson J_P et al. 
  Temple-Baraiser syndrome : a rare and possibly unrecognized condition. 
  Am  J Med Genet Part A 2010; 152A: 2322-6.

Updated: September 2018