Rare: 0.2 to 1/100.000. Autosomal dominant transmission of a mutation of the TRS1 gene (8q23.3).

Three different types:

- type 1:        [MIM 190 350] normal intelligence; typical facies: pear-shaped nose, abnormal dentition, micrognathia; fine and sparse hair, atrophic lateral eyebrows; cone-shaped phalangeal epiphyses; frequent respiratory infections; early osteoarthritis.

- type 2:        [MIM 150 230] Langer-Giedion syndrome (see this term), that is a syndrome of continuous genes where the loss of the TRS1 gene is associated to a loss of the EXT1 gene (8q24.11-q24.13): microcephaly, variable mental delay, hyperlaxity of the joints, multiple exostoses

- type 3:        [MIM 190 351] similar to the type 1 but with severe brachydactyly and short stature

Anesthetic implications:

risk of difficult intubation: macroglossia, short epiglottis, narrow larynx. A smaller sized (video)laryngoscope blade and tracheal tube than that estimated according to age, should be foreseen.

References : 

• Graybeal LS, Baum VC, Durieux ME. 
  Anaesthetic management of a patient with tricho-rhino-phalangeal syndrome. 
  Eur J Anaesthesiol 2005; 22: 400-2 
• Esmaeilzadeh S, D’Souza RS, Steward TM, Sexton MA.
  Urgent airway management and postoperative complications in a patient with trichorhinophalangeal syndrome.
  Case Reports in Anesthesiology, 2020, doi 10.1155/2020/8835533

Updated: February 2021