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Genetic skeletal dysplasia in Thailand: the Siriraj experience
P Wasant1, S Waeteekul, D L Rimoin
1Medical Genetics Unit, Siriraj Hospital Faculty of Medicine Mahidol University, Bangkok, Thailand.
Insights
Genetic skeletal dysplasias are rare genetic disorders causing abnormal bone growth and short stature. Siriraj Hospital
Area of Science:
- Genetics
- Pediatrics
- Orthopedics
Background:
- Genetic skeletal dysplasias encompass over 100 distinct disorders characterized by skeletal abnormalities, often leading to disproportionate short stature.
- Classification of these conditions is primarily based on clinical and radiographic features.
Observation:
- Siriraj Hospital's Department of Pediatrics has identified numerous genetic skeletal dysplasia cases.
- Specific identified conditions include achondroplasia, osteogenesis imperfecta types I-III, and various mucopolysaccharidoses and mucolipidoses.
Findings:
- A dedicated Genetic Skeletal Dysplasia Clinic was established at Siriraj Hospital in 1992.
- The clinic manages referrals nationwide, offering comprehensive care for diverse skeletal dysplasias.
Implications:
- The clinic provides essential genetic counseling, including prenatal diagnosis.
- A multidisciplinary approach ensures holistic patient management for genetic skeletal dysplasias.
Abstract:
Genetic skeletal dysplasias are a heterogeneous group of genetic disorders associated with abnormalities in the skeletal system frequently presenting with disproportionate short stature. There are over 100 distinct skeletal dysplasias which have been classified primarily on the basis of the clinical or radiographic characteristics. We have identified many genetic skeletal dysplasia disorders at Department of Pediatrics, Siriraj Hospital, Bangkok, Thailand. We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets. We have established a Genetic Skeletal Dysplasia Clinic at Siriraj Hospital since 1992, and see referrals from around the country. Genetic counseling is provided, including prenatal diagnosis and a multidisciplinary approach.