[MIM 121 050]

(Marfan type 2, CCA syndrome , arthrogryposis type 9, Beals-Hecht syndrome)

Autosomal dominant transmission of a mutation of the FBN2 gene  (5q23) coding for fibrillin. Phenotypically similar to Marfan's syndrome but there is no ocular involvement. In addition, arachnodactyly with congenital contractures is the initial presentation, hence the CCA acronym for Congenital Contractural Arachnodactyly.

Besides arachnodactyly and contracture of the large joints,

-         micrognathia, arched palate, 

-         crumpled aspect of the pinna (ears)

-         clubfeet

-         pectus excavatum 

-         rarely: dilatation of the aortic arch 

-         mitral valve prolapse

-         scoliosis, kyphoscoliosis

Anesthetic implications: 

Difficult positioning due to joint contractures. Cardiac ultrasound (mitral valve prolapse, aortic arch).

References : 

-        Nagata O, Tateoka A, Shiro R, Kimizuka M, Hanaoka K. 
Anaesthetic management of two paediatric patients with Hecht-Beals syndrome. 
Pediatr Anesth 1999; 9: 444-7. 

Updated: November 2019