Catel-Manzke syndrome

Catel‑Manzke syndrome is a rare genetically determined congenital disorder associated with deformities of multiple body parts.

Causes

The cause of the syndrome is a genetic mutation. The defective gene is presumably located on the X chromosome.

Symptoms

In this syndrome, facial and limb deformities are present. Affected individuals have a very small and narrow mandible (lower jaw), and the tongue is displaced posteriorly within the oral cavity. Cleft anomalies of the face are also present.

Characteristic deformities also occur in the index fingers of the upper limbs - the index finger has one additional, irregularly shaped phalanx, resulting in an abnormal position of the finger. Individuals with this syndrome more frequently suffer from recurrent middle ear infections, and congenital heart defects may occasionally occur.

Diagnosis

The syndrome may be suspected after a thorough clinical examination demonstrating the above‑mentioned features. In addition, genetic testing can be performed to exclude other known syndromes with similar manifestations.

Treatment

Prevention is not possible, and the syndrome itself cannot be cured. Plastic and reconstructive surgery can substantially address many of the deformities.

• deformácie tváre a končatín
• úzka malá dolná čelusť
• jazyk je posunutý dozadu (v ústnej dutine)
• rážtepové chyby na tvári
• ukazovák má jeden článok navyše (je v abnormálnej pozícii)
• srdcové vrodené chyby (u niektorých prípadov)
• infekcie stredného ucha