Catel-Manzke, syndrome

[MIM 616 145]

(Type Catel-Manzke palato-digital syndrome, Pierre Robin-hyperphalangia-clinodactyly sequence)

Extremely rare. Autosomal recessive transmission of a mutation of the TGDS gene (13q32.1)


Form of palato-digital syndrome combining:

-         Pierre-Robin sequence: retrognathia, glossoptosis, cleft palate

-         bilateral forefinger malformation: presence of a small accessory bone in the metacarpo-phalangeal joint, hyperphalangia and clinodactyly


Sometimes: heart disease, retarded growth, eye anomalies (coloboma, hypertelorism and narrow palpebral fissures), pectus excavatum, scoliosis, knee dislocation.


There are 4 subgroups:

-         classic form

-         form where there are more than 2 accessory bones in the hand

-         form where the digital anomaly is unilateral

-         form without Pierre-Robin sequence


Anesthetic implications: 

difficult intubation ; preoperative cardiac ultrasound


References : 

-        Manzke H, Lehmann K, Klopocki E, Caliebe A. 
Catel-Manzke syndrome: two new patients and critical review of the literature. 
Eur J Med Genet 2008; 51: 452-65.


Updated: November 2019