Pycnodysostosis

Common Name(s)

Pycnodysostosis, Pyknodysostosis

Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead and dental abnormalities.  Pycnodysostosis is an autosomal recessive genetic condition.  The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21.  The diagnosis of pycnodysostosis is based on physical features and X-ray findings.  Molecular genetic testing is available.  Management is symptomatic.  Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pycnodysostosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pycnodysostosis" returned 27 free, full-text research articles on human participants. First 3 results:

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.
 

Author(s): Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang

Journal: Medicine (Baltimore). 2017 Mar;96(12):e6367.

 

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine ...

Last Updated: 22 Mar 2017

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Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
 

Author(s): Thaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, Carolina Araujo Moreno, Paula Frassinetti Vasconcelos de Medeiros, Renata Moldenhauer Minillo, Débora Gusmão Melo, Chong Ae Kim, Maria Juliana Rodovalho Doriqui, Têmis Maria Felix, Rodrigo Ambrosio Fock, Denise Pontes Cavalcanti

Journal:

 

Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence ...

Last Updated: 25 Aug 2016

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Papilledema from craniosynostosis in pycnodysostosis.
 

Author(s): Sung-eun E Kyung, Jonathan C Horton

Journal: Pediatr. Neurol.. 2015 Jan;52(1):128-9.

 

Last Updated: 23 Dec 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pycnodysostosis" returned 3 free, full-text review articles on human participants. First 3 results:

Pycnodysostosis presenting as atypical stridor.
 

Author(s): L Manfredi, S Marlin, B Fauroux, N Garabedian, V Couloigner, N Leboulanger

Journal: Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Apr;133(2):87-90.

 

Pycnodysostosis is a rare genetic disorder caused by a mutation of the cathepsin K gene involved in bone turnover. It is responsible, in particular, for a combination of dwarfism and bone fragility. Upper airway obstruction may be observed, but associated stridor has never been previously described.

Last Updated: 8 Apr 2016

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Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
 

Author(s): Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao, Xiaohong Duan

Journal:

 

Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the advances in the research about CTSK and pycnodysostosis, we performed ...

Last Updated: 13 Jun 2011

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Pycnodysostosis. A report of 3 clinical cases.
 

Author(s): Daniela Alves Pereira, Leonardo Berini Aytés, Cosme Gay Escoda

Journal:

 

Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased ...

Last Updated: 2 Oct 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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