[MIM 277 600, 608 328, 613 195]

(spherophakia-brachymorphism syndrome)

Rare. Autosomal dominant transmission of mutations of the FBN1 gene on 15q21.1 or recessive mutations in the ADAMST10 gene on 19q 13.3-q13.2. This causes abnormalities of the extracellular matrix with fibrous tissue hyperplasia characterized by:

-        short stature (brachymorphism) (< P3)

-        brachydactyly: short fingers with thick phalanges

-        maxillary hypoplasia and narrow palate,

-        stiffness of joints, especially at the level of the neck

-        eye anomalies: dislocation of the lens, myopia, cataract, glaucoma, microspherophakia

-        cardiac abnormalities: mitral or aortic valvular disease, long QT (?).

Anesthetic implications:

difficult intubation. Difficult positioning due to joint stiffness.

References : 

-        Dal D, Sahin A, Aypar U. 
Anesthetic management of a patient with Weill-Marchesani syndrome. 
Acta Anaesthesiol Scand 2003; 47: 369-70.

-        Karabiyik L. 
Airway management of a patient with Weil-Marchesani syndrome. 
J Clin Anesth 2003; 214-6.

-         Bhakta P, Mady HA, Burad J, Tawfic QA.
Anaesthetic management of a patient with Weil-Marchesani syndrome complicated with mitral regurgitation. 
Indian J Anaesth 2011; 55: 428-30.

Updated: September 2018