Skeletal Disorders

Genetic skeletal disorders consist of diverse group of conditions that affects the structure, development, and functions of bones and connective tissues. Different categories of skeletal disorders:

Short stature disorders
Connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome
Craniosynostosis syndromes
Osteochondrodysplasias: Diastrophic dysplasia and pseudoachondroplasia
Skeletal Dysplasias with Ocular Abnormalities: Stickler syndrome and Kenny-Caffey syndrome
Arthrogryposis syndromes
Other skeletal conditions such as osteogenesis imperfecta, osteopetrosis, spondyloepiphyseal dysplasia, achondrogenesis, chondrodysplasias, metaphyseal dysplasia, hypophosphatasia etc

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