[MIM 303 600]

Rare: 1/50.000. Sporadic (70%) or semi-dominant transmission of a mutation of the RPS6KA3 gene (Xp22.2-p22.1.) coding for RS6K2, a protein kinase regulating the function of other proteins (learning, memory and survival of nerve cells). The disease is more severe in boys.

Highly variable clinical signs:

-         at birth: hypotonia and joint hyperlaxity, sometimes chubby fingers with tapered ends

-         psychomotor retardation

-         growth retardation with delayed bone age; facial dysmorphism that worsens with age: hypertelorism, epicanthus, thick lips, droopy palpebral fissures, short and broad nose with anteverted nares, frontal bossing, large ears; hypoplasia of the midface; progressive microcephaly

-         mouth: median labial furrow, arched palate, hypodontia and sharp teeth

-         anomalies of the hands: hyperextensible and soft with a flaccid skin, short and tapered fingers; RX: tuberosity of the distal phalanges, pseudoepiphysis of the metacarpals

-         skeletal abnormalities: cranial hyperostosis, spondylolisthesis, kyphoscoliosis, pectus excavatum or carinatum;

-         neurosensory auditory deficiency (30 %)

-         sometimes: epilepsy, falls without loss of consciousness caused by stimuli (noise, touch) (10-20 %), agenesis of the corpus callosum, cardiac anomalies (15 %)

Anesthetic implications: 

mental retardation, fragile teeth, hearing loss, avoid noisy stimulations. risk of difficult intubation

References : 

• Jacquot S, Zeniou M, Touraine R, Hanauer A. 
  X-linked Coffin-Lowry syndrome. 
  Eur J Hum Genet 2002; 10:2-5.
• Lange IR, Stone P, Aftimos S. 
  The Coffin-Lowry syndrome: a case report and review of literature.
  J Obstet Gynaecol Can 2010; 32: 691-4.
• Rojnueangnit K, Jones JR, Basehore MJ, Robin NH. 
  Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. 
  Am J Med Genet Part A 2013; 164A: 516-21.
• Deguchi S, Komasawa N, Morimoto K , Minami T. 
  Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. 
  J Clin Anesth 2016 ; 29  (in press)
  
  

Updated: October 2019