Carnevale-Herna..

A disorder that results in anatomical anomalies of the hands and feet.

Triphalangeal Thumbs and Brachyectrodactyly Syndrome.

The few cases reported relate to four kindreds mainly from Mexico. It occurs either sporadically or as an autosomal dominant inherited syndrome with highly variable expression.

The syndrome is diagnosed based on the clinical findings of congenital anomalies of the hands and feet. These findings are principally restricted to the extremities and include triphalangeal thumbs, brachy(syn)dactyly of the index fingers and third toes and occasionally ectrodactyly of the hands and feet. Short stature, ectrodactyly (more often of the feet than of the hands), and onychodystrophy occasionally occur.

Anesthesia for patients with this condition has not been reported. The mainly peripheral nature of the features and the absence of associated organ dysfunction suggest no specific precautions should be necessary.

Carnevale A, Hernandez M, del Castillo V: A new syndrome of triphalangeal thumbs and brachyectrodactyly. Clin Genet 18:244, 1980.  [PubMed: 7438506]
Silengo MC, Biagioli M, Bell GL, et al: Triphalangeal thumb and brachy-ectrodactyly syndrome: Confirmation of autosomal dominant inheritance. Clin Genet 31:13, 1987.  [PubMed: 3568429]
Zenteno JC, Aguinaga M, Chavez V, et al: Triphalangeal thumb and brachyectrodactyly syndrome: An uncommon entity with evidence of geographic distribution. Clin Genet 50:152, 1996.  [PubMed: 8946115]

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