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Pycnodysostosis

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Also Known As:
Pycnodysostoses; Pyknodysostoses; Pyknodysostosis
Networked: 93 relevant articles (2 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Sleep Apnea Syndromes (Sleep Apnea)
2. Malocclusion (Crossbite)
3. Osteopetrosis
4. Bone Resorption
5. Osteoporosis

Experts

1. Everts, V: 3 articles (04/2013 - 01/2000)
2. Gelb, Bruce D: 3 articles (03/2009 - 08/2002)
3. Gonzalez-Huerta, Luz Maria: 2 articles (05/2015 - 02/2011)
4. Leoni, Chiara: 2 articles (08/2014 - 03/2012)
5. Testani, Elisa: 2 articles (08/2014 - 03/2012)
6. Losurdo, Anna: 2 articles (08/2014 - 03/2012)
7. Della Marca, Giacomo: 2 articles (08/2014 - 03/2012)
8. Zampino, Giuseppe: 2 articles (08/2014 - 03/2012)
9. Gnoni, Valentina: 2 articles (08/2014 - 03/2012)
10. Vollono, Catello: 2 articles (08/2014 - 03/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pycnodysostosis:
1. Growth Hormone (Somatotropin)IBA
2. Cathepsin KIBA
3. CollagenIBA
4. Insulin-Like Growth Factor I (IGF-1)IBA
5. Tetracycline (Achromycin)FDA LinkGeneric
6. SclerosteosisIBA
7. hereditary expansile Polyostotic osteolytic dysplasiaIBA
8. Cysteine Proteases (Cysteine Protease)IBA
9. Proline (L-Proline)FDA Link
10. PapainIBA

Therapies and Procedures

1. Distraction Osteogenesis
2. Transplants (Transplant)
3. Sutures (Suture)
4. Arthroplasty
5. Aftercare (After-Treatment)