Catel-Manzke, syndrome
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(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