Camptodactyly Syndrome, Guadalajara, Type I

Cantu et al. (1980) described 2 sisters, aged 18 and 11 years, with intrauterine growth retardation and camptodactyly as a leading feature. They were 142 and 126 cm tall, respectively. Epicanthus, broad nasal bridge, flat face, depressed lower sternum, twelfth rib hypoplasia, fibular hypoplasia, and hallux valgus were other features. The parents were not demonstrably consanguineous but their forebears had lived in the same small village for several generations. Figuera et al. (1993) corroborated and further delineated this syndrome on the basis of 3 sibs from a Mexican family: 2 girls, aged 18 and 9 years, and a 7-year-old boy. They had intrauterine growth retardation, dwarfism, peculiar facial appearance, camptodactyly, and skeletal anomalies. The parents were related as half third cousins. The family was from the same region as the one earlier reported. All 5 reported patients had brachycephaly, microcephaly, flat facies, epicanthal folds, and telecanthus, as well as small, downturned mouth, dental malocclusion, hallux valgus, and pectus carinatum/excavatum.

In 2 Brazilian brothers born to consanguineous parents, Richieri-Costa et al. (1994) reported a seemingly 'new' syndrome characterized by thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. The older boy was found to have megacolon at the age of 2 years but surgical intervention was not necessary. Both brothers had seizures. Richieri-Costa et al. (1994) referred to the condition as faciothoracoskeletal syndrome.

Ramirez-Duenas and Cantu (1995) suggested, and Richieri-Costa (1995) agreed, that the entity named faciothoracoskeletal syndrome is the same as Guadalajara camptodactyly syndrome type I.

Zechi-Ceide et al. (2002) reported a Brazilian female with a thin/long face, blepharophimosis, minor auricular anomalies, camptodactyly, and thoracic and spinal anomalies. The authors considered the clinical features in this patient to be consistent with the diagnosis of Guadalajara camptodactyly syndrome type I.

Also see Guadalajara camptodactyly syndrome type II (211920) and type III (611929).