Camptodactyly Syndrome, Guadalajara, Type Iii

Clinical Features

Figuera et al. (2002) described a 4-generation Mexican family with camptodactyly, distinctive facial features, spinal defects, thin hands and feet, and mild mental retardation. Facial features included flat facies, telecanthus, simplified ears, retrognathia, and symblepharon pterygium. Other clinical features included short neck with pterygium colli, multiple nevi of the face and torso, and external rotation of the fourth and fifth toes. Radiographs revealed spina bifida occulta at the cervicodorsal and dorsolumbar levels, widened femoral necks, cortical thickening, and delayed bone age.

Inheritance

Figuera et al. (2002) suggested autosomal dominant inheritance, but no male-to-male transmission was demonstrated.

Nomenclature

Figuera et al. (2002) proposed that this syndrome be designated Guadalajara camptodactyly syndrome type III.