[MIM 272 440]

(Scott craniodigital syndrome with mental retardation, Syndactyly type I with microcephaly and mental retardation )

Very rare: less than 1/106. Autosomal recessive transmission.

Association of:

-         cutaneous syndactyly (of variable importance) of the fingers and toes

-         microcephaly

-         intellectual deficit

-         growth retardation

-         facial dysmorphism: high and broad nose, thin wings of the nose; micrognathia; high implantation of hair

Sometimes: polydactyly, dental anomalies.

Anesthetic implications:

mental retardation, risk of difficult intubation, epilepsy

References : 

-        Sandhu M, Malik P, Saha R. 
Multiple dental and skelethal abnormalities in an individual with Filippi syndrome.
Case Reports in Dentistry, 2013: 845405, 4 p

-        Battaglia A, Filippi T, Pusceddu S, Williams CA.         
Filippi syndrome. 
Am J Genetics  Part A; 2008; 146A: 1848-52. 

Updated: May 2019