[3] The disease was first described by Maroteaux and Lamy in 1962[4][5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible.

Other abnormalities involve the head and face, teeth, collar bones, skin, and nails.

High bone density, Acro-osteolysis and obtuse mandibular angle are the characteristic radiological findings of this disorder.

[12][13] The molecular basis of pycnodysostosis was elucidated in 1996 by Gelb and collaborators and the disorder results from biallelic pathogenic mutation in CTSK gene (OMIM * 601105).

Skeletal surveys can also aid in clinical diagnosis and characteristic features include high bone density, acro-osteolysis and obtuse mandibular angle.

Due to the limited number of exons of the CTSK gene that causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis.

The treatment of pycnodysostosis is currently based on symptomatic management and no active trials are in place for a curative approach.

The comorbidities like short stature, fracture and maxillofacial issues can be easily managed when identified earlier, which can improve the quality of life of these individuals.