[MIM 115 470]

(Schmid-Fraccaro syndrome)

Prevalence: 1/74,000. Linked to the presence of a reverse supernumerary fragment of chromosome 22 (inverted duplication: trisomy or proximal tetrasomy 22),  most often appearing de novo but genetically transmissible to the half of the descent (paternal as well as maternal).

Polymalformative syndrome combining, in  a variable way, the following triad:

-        vertical coloboma (cat's eye) that is present in 50 % of cases

-         anal anomaly: anal atresia or other digestive or renal abnormalities

-        post-auricular appendages, narrow ear canals

and often:

-        hypertelorism, micrognathia, cleft of the velum and/or palate

-        heart disease: abnormal pulmonary venous return, tetralogy of Fallot, persistence of the left superior vena cava

-        choanal atresia

-        intellectual deficiency

Anesthetic implications: 

Difficult intubation. Echocardiogram, renal function.

References: 

-        Devadaram P, Seefelder C, Lillehei CW.
Anaesthetic management of Cat Eye syndrome. 
Paediatr Anaesth 2001; 746 8.

Updated: November 2019