Carpenter, syndrome

[MIM 201 000, 614 976]

(Acrocephalopolysyndactyly type II)


Very rare. Acrocephalopolysyndactyly. Autosomal recessive transmission of a mutation of the RAB23 gene (6p12.1-q12) combining:


-         craniosynostosis, acrocephaly; midface hypoplasia

-         brachydactyly, syndactyly of the hands and feet, preaxial polydactyly;

-         cardiac malformation

-         retention of primary teeth

-         in the older child: hypogenitalism and obesity, mental retardation.


Anesthetic implications: 

difficult intubation, possibly increased intracranial pressure; obesity; congenital heart disease


References : 

-         Yatindra KB, Subramanyam R, Srinivas N, Grover G.
Anesthetic implications of Carpenter syndrome (acrocephalosyndactyly type II). 
Pediatr Anesth 2008; 18: 1235-7.

-         Bhardwaj M, Grange C. 
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. 
Int J Obstet Anesth 2013; 22: 251-4.


Updated: November 2019