Skeletal Diseases of Genetic Cause: Experience in a National Reference Service

Background: skeletal diseases of genetic cause are a heterogeneous group of disorders of the growth, development of bone and cartilage that includes more than 350 entities. The increase in its knowledge has meant that experts have reviewed its nomenclature on several occasions. Objective: to analyze aspects of the current classification the skeletal diseases of genetic cause, taking into account the diagnosis of patients treated in a national reference service of Clinical Genetics. Methods: a descriptive, retrospective study, was carried out by means of a documentary review of the data registered between September 1984 and December 2019 in the Clinical Genetics Service of the Centro Habana Pediatric Hospital. 225 cases with clinical evidence of skeletal diseases were included. The standardized clinical method was applied in the genetics network. The diagnosis was made using the comparative method. The diseases identified were contrasted with those included in the classification described in 2010. Results: specific skeletal diseases were identified in 190 patients, the most frequent found were Ehlers-Danlos syndrome (n = 19; 10 %), achondroplasia (n = 18; 9.4 %) and Marfan syndrome (n = 17; 8.9 %). Of the 40 groups included in the classification analyzed, the one with the highest number was due to overgrowth. We found a patient with Wildervanck syndrome and a case with gluteal hypoplasia with ipsilateral lower limb synbrachydactyly, these diseases are not listed in the current classification. Conclusion: the current classification of genetic bone diseases is the product of human knowledge and should be subject to change