<unk>  is one of those disorders which has a typical facial gestalt and can be clinically identified in the majority of cases. Skeletal surveys can also aid in clinical diagnosis and characteristic features include high bone density, acro-osteolysis and obtuse mandibular angle. Molecular testing will be the final resort to confirm the diagnosis. Due to the limited number of exons of the CTSK gene that causes<unk> , a cheaper genetic testing called sanger sequencing can be employed to confirm the diagnosis.
Pycnodysostosis
Cleidocranial dysostosis
Acrodysostosis
Dysostosis
Melorheostosis
Cemento-osseous dysplasia
Gerodermia osteodysplastica
Metaphyseal dysplasia