[MIM 601 680]

(distal arthrogryposis  type 2b)

Distal arthrogryposis (see this term) very similar to the Freeman - Sheldon syndrome (DA2A) with which it is often confused: there is hands  (camptodactyly) and feet (severe clubfoot) contracture but few, if any, of the muscles of the face and no scoliosis. Sporadic cases or autosomal dominant transmission(50 %) of mutations in the TNNI2 genes (on 11p15.5)  which codes for troponin I isoforms (< 10%), TNNT3 gene (on 11p15.5) which codes for troponin T (< 10%), or MYH3 gene (on 17p13.3) that codes for myosin of heavy chains type 3 (30%).

Clinical presentation:

-        triangular face, small pointed chin, micrognathia, small mouth opening, ears lobes next to the skull, downslanting palpebral fissures, arched palate, prominent nasolabial grooves

-        camptodactyly, overlapping fingers, ulnar deviation of forearm, hypoplastic or absent flexion creases

-        clubfeet, talipes equinovarus, metatarsus varus

-        sometimes: cleft lip and/or palate, webbed neck

Anesthetic implications:

risk of difficult intubation; peripheral venous access may be difficult. One reported patient whose two cousins were likely susceptible to malignant hyperthermia: family history!

References : 

• Anderson TA, Kasser JR, Holzman RS. 
  Anesthetic considerations in Sheldon-Hall syndrome. 
  Pediatr Anesth 2014; 24: 538-40.
  
  

Updated: September 2018