[MIM 601 680]

(distal arthrogryposis  type DA2B3)

Distal arthrogryposis (see this term) associated with craniofacial anomalies, malformations of the extremities and sometimes of the spine. It represents a less severe form of Freeman-Burian syndrome, with which it is often confused. Sporadic cases or autosomal dominant transmission (50 %) of mutations of the TNNI2 (at 11p15.5) gene coding for troponin I isoforms (< 10 %), TNNT3 (11p15.5) coding for troponin T (< 10 %), TPM2 (9p13.2) or MYH3 (17p13.3) coding for heavy chain myosin type 3 (30 %). 

Diagnostic criteria :

-        small, pointed, prominent chin

-        small mouth opening,

-        prominent nasolabial folds

-        webbed neck

-        distal deformities of the extremities

And furthermore

-        a pointed face

-        earlobes close to the skull, downsliding palpebral slits,

-        ogival palate

-        camptodactyly, ulnar deviation of forearms, hypoplastic or absent phalangeal flexion folds

-        club feet, talus feet, metatarsus varus

-        sometimes: cleft lip and/or palate, scoliosis

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.  
• Poling MI, Dufresne CR.
  Anaesthesia recommendations for Sheldon-Hall syndrome.
  OrphanAnesthesia. 20 Feb 2019.
  
  

Updated: July 2024