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.Dysostoses: Defective bone formation involving individual bones, singly or in combination.Cathepsin K: A cysteine protease that is highly expressed in OSTEOCLASTS and plays an essential role in BONE RESORPTION as a potent EXTRACELLULAR MATRIX-degrading enzyme.Bone Diseases, DevelopmentalAnemia, Myelophthisic: Anemia characterized by appearance of immature myeloid and nucleated erythrocytes in the peripheral blood, resulting from infiltration of the bone marrow by foreign or abnormal tissue.Maxillofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.Cranial Fontanelles: Any of six membrane-covered openings between the CRANIAL SUTURES in the incompletely ossified skull of the fetus or newborn infant. The fontanelles normally close sometime after birth.Cathepsins: A group of lysosomal proteinases or endopeptidases found in aqueous extracts of a variety of animal tissues. They function optimally within an acidic pH range. The cathepsins occur as a variety of enzyme subtypes including SERINE PROTEASES; ASPARTIC PROTEINASES; and CYSTEINE PROTEASES.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Consanguinity: The magnitude of INBREEDING in humans.

*  Signs of Pycnodysostosis - RightDiagnosis.com
... and the correct diagnosis for Pycnodysostosis signs or Pycnodysostosis symptoms. ... Signs of Pycnodysostosis including medical signs and symptoms of Pycnodysostosis, symptoms, misdiagnosis, tests, common medical ... Complications of Pycnodysostosis *Hidden causes of Pycnodysostosis *Associated conditions for Pycnodysostosis *Risk factors for ... Symptoms of Pycnodysostosis *More about Symptoms *Medical articles Symptoms of Pycnodysostosis. The list of medical symptoms ...
  http://www.rightdiagnosis.com/p/pycnodysostosis/signs.htm
*  Pycnodysostosis - Wikipedia
The precise frequency of pycnodysostosis has not been determined. Pycnodysostosis can be classified in the large group of ... Pycnodysostosis also causes problems that may become evident with time. Aside from the broken bones, the distal phalanges and ... Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition of the bone")), is a ... Cathepsin K became a much sought-after drug target in osteoporosis after the cause of pycnodysostosis was discovered. The ...
  https://en.wikipedia.org/wiki/Pycnodysostosis
*  Calcaneal bone redness and Infection - Symptom Checker - check medical symptoms at RightDiagnosis
Pycnodysostosis. 980. Pyelonephritis. 981. Pyoderma Gangrenosum. 982. Pyogenic pericarditis. 983. Pyomyositis. 984. Pyridoxine ...
  http://wrongdiagnosis.com/cosymptoms/calcaneal-bone-redness/infections-sall.htm
*  Kenny-Caffey Syndrome - NORD (National Organization for Rare Disorders)
Pycnodysostosis is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Pycnodysostosis" ... Pycnodysostosis is a rare disorder characterized by short stature and increased density of the bones. Individuals with this ...
  https://rarediseases.org/rare-diseases/kenny-caffey-syndrome/
*  ScopeMed.org - Deposit for Medical Articles
Pycnodysostosis- A Review Ramachandran Sudarshan, G. Sree Vijayabala. The Southeast Asian Journal of Case Report and Review. ...
  http://www.scopemed.org/?term=Vadivelan%20Ramachandran&sarea=author&b1=Search+ScopeMed
*  July 2013 - Volume 24 - Issue 4 : Journal of Craniofacial Surgery
A Subcranial Le Fort III Advancement With Distraction Osteogenesis as a Clinical Strategy to Approach Pycnodysostosis With ...
  http://journals.lww.com/jcraniofacialsurgery/toc/2013/07000
*  Genetics of Osteopetrosis | Springer for Research & Development
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases. Int Orthop. 2016;40(11):2221-31.PubMedCrossRefGoogle ... Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996;273(5279):1236-8.PubMedCrossRefGoogle ... Pycnodysostosis: mutation spectrum in five unrelated Indian children. Clin Dysmorphol. 2016;25(3):113-20.PubMedCrossRefGoogle ... Novel mutation and white matter involvement in an Indian child with pycnodysostosis. Indian J Pediatr. 2015;82(5):471-3.PubMed ...
  https://rd.springer.com/article/10.1007/s11914-018-0415-2
*  Cleidocranial | definition of cleidocranial by Medical dictionary
Several bone diseases should be considered in the differential diagnosis of pycnodysostosis, most importantly cleidocranial ...
  http://medical-dictionary.thefreedictionary.com/cleidocranial
*  Dysostosis | definition of dysostosis by Medical dictionary
... a bone only rarely affected in pycnodysostosis) (1) and does not result in overall increased bone density.. Pycnodysostosis ... 1), (2) Cleidocranial dysostosis presents similarly to pycnodysostosis, with persistent open fontanelles and cranial sutures; ...
  https://medical-dictionary.thefreedictionary.com/dysostosis
*  List of OMIM disorder codes - Wikipedia
BMPR2 Pycnodysostosis; 265800; CTSK Pyogenic bacterial infections, recurrent, due to MYD88 deficiency; 612260; MYD88 Pyogenic ...
  https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
*  Degradation of the Organic Phase of Bone by Osteoclasts: A Secondary Role for Lysosomal Acidification - Henriksen - 2005 -...
Gelb BD, Shi GP, Chapman HA, Desnick RJ 1996 Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273 ... Everts V, Aronson DC, Beertsen W 1985 Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis. Calcif ... Gelb BD 1999 Determination of bone markers in pycnodysostosis: Effects of cathepsin K deficiency on bone matrix degradation. J ...
  http://onlinelibrary.wiley.com/doi/10.1359/JBMR.050905/references
*  Leg symptoms and Tardive dyskinesia - Symptom Checker - check medical symptoms at RightDiagnosis
Pycnodysostosis. 2188. Pyridoxine deficiency. 2189. Pyridoxine deficiency-induced Sideroblastic anemia. 2190. Pyruvate Kinase ...
  http://symptoms.rightdiagnosis.com/cosymptoms/leg-symptoms/tardive-dyskinesia-sall.htm
*  Cathepsin K Deficiency Reduces Elastase Perfusion-Induced Abdominal Aortic Aneurysms in Mice | Arteriosclerosis, Thrombosis,...
Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence ...
  http://atvb.ahajournals.org/content/32/1/15
*  Publikationer
Pycnodysostosis. En oversigt og præsentation af et tilfælde. / Østergaard, Rikke Louise; Kreiborg, S.; Niebuhr, Erik. ...
  https://curis.ku.dk/portal/da/publications/search.html?publicationYearsFrom=1999&ordering=researchOutputOrderByFirstAuthor&publicationYearsTo=1999&descending=true
*  CTSK gene - Genetics Home Reference
Pycnodysostosis (PKND): A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges ... Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and ...
  https://ghr.nlm.nih.gov/gene/CTSK
*  Cathepsin K Human, Mouse Monoclonal Antibody, Clone: 3F9 | BioVendor.com - BioVendor
Humans lacking cathepsin K exhibit pycnodysostosis, which is characterized by short stature and osteosclerosis. Cathepsin K ... knockout mice develop osteopetrosis and display features characteristic of pycnodysostosis, and osteoclasts isolated from these ...
  https://www.biovendor.com/cathepsin-k-human-mouse-monoclonal-antibody-clone-3f9-1
*  Cathepsin K - Wikipedia
1997). "A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis". Genome Res. 6 (11): 1050-5. doi ... 1995). "The gene for pycnodysostosis maps to human chromosome 1cen-q21". Nat. Genet. 10 (2): 238-9. doi:10.1038/ng0695-238. ... Motyckova G, Fisher DE (2003). "Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease". ... Gelb BD, Edelson JG, Desnick RJ (1995). "Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping". Nat. Genet. 10 ...
  https://en.wikipedia.org/wiki/Cathepsin_K
*  Sperm Donor Profile - Oakley
Pycnodysostosis: Non-Carrier. *Rhizomelic Chondrodysplasia Punctata Type 1: Non-Carrier. *Salla Disease: Non-Carrier ...
  https://www.seattlespermbank.com/donors/oakley/
*  Carrier Screening (rare diseases, syndromes and traits) | Sequencing.com
Pycnodysostosis. *Pyridoxine Responsive Homocystinuria. *Pyruvate Carboxylase Deficiency. *Pyruvate Dehydrogenase E1-alpha ...
  https://sequencing.com/carrier-screening-rare-diseases-syndromes-and-traits
*  SelfDecode | Genome Analysis
Pycnodysostosis CTSK. Respiratory Distress Syndrome, Adult PSMA4. Respiratory Insufficiency PLAT. Reticulocytosis PARK7. ...
  https://www.selfdecode.com/molecular-function/GO:0008233/
*  SelfDecode | Genome Analysis
Pycnodysostosis CTSK. Recurrence CTSL. Salivary Gland Neoplasm ESPL1. Schizophrenia CASP4. Sepsis CASP3. ...
  https://www.selfdecode.com/molecular-function/GO:0008234/
*  Faces-Lysosomal Disease
Pycnodysostosis. Sandhoff Disease/Adult Onset/GM2 Gangliosidosis. Sandhoff Disease/GM2 Gangliosidosis - Infantile ...
  http://www.projectshui.com/Faces-Lysosomal_Disease.html
*  Osteopetrosis and Dense bone dysplasia NGS panel | Connective Tissue Gene Tests
Pycnodysostosis (PKND). 265800. AR. DLX3. Trichodontoosseous syndrome (TDO). 190320. AD. FAM20C. Raine syndrome (RNS). 259775. ...
  http://ctgt.net/panel/osteopetrosis-and-dense-bone-dysplasia-ngs-panel
*  You searched for - Seattle Sperm Bank
Pycnodysostosis. Rhizomelic Chondrodysplasia Punctata Type 1. Salla Disease. Sandhoff Disease. Segawa Syndrome ...
  https://www.seattlespermbank.com/donors/

Acrofrontofacionasal dysostosis: Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.OdanacatibHypochondrogenesisDacrocyte: A dacrocyte (or dacryocyte) is a type of poikilocyte that is shaped like a teardrop (a "teardrop cell"). A marked increase of dacrocytes is known as "dacrocytosis".Kocher–Debre–Semelaigne syndrome: The Kocher–Debré–Semelaigne syndrome is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism. The absence of painful spasms and pseudomyotonia differentiates this syndrome from Hoffmann syndrome.Fontanelle: A fontanelle (or fontanel) (colloquially, soft spot) is an anatomical feature of the infant human skull comprising any of the soft membranous gaps (sutures) between the cranial bones that make up the calvaria of a fetus or an infant. Fontanelles allow for rapid stretching and deformation of the neurocranium as the brain expands faster than the surrounding bone can grow.Cathepsin: Cathepsins (Ancient Greek kata- "down" and hepsein "boil"; abbreviated CTS) are proteases (enzymes that degrade proteins) found in all animals as well as other organisms. There are approximately a dozen members of this family, which are distinguished by their structure, catalytic mechanism, and which proteins they cleave.Dwarfism: Dwarf}}Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.

(1/3) Pyknodysostosis: oral findings and differential diagnosis.

Pyknodysostosis is a rare, genetic, autosomal recessive condition characterized by short stature, generalized bone sclerosis, and oral manifestations such as maxillary atresia and an increase of the mandibular angle. The main purpose of this article was to report a case of pyknodysostosis, describing the characteristic orofacial findings of the disease and discussing the differential diagnosis.  (+info)

(2/3) Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.

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(3/3) Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.

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