Jansen's metaphyseal chondrodysplasia: Difference between revisions

Jump to navigation Jump to search
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
No edit summary
 
(5 intermediate revisions by the same user not shown)
Line 1: Line 1:
{{Infobox_Disease |
__NOTOC__
  Name          = {{PAGENAME}} |
{{SI}}
  Image          = |
{{CMG}}
  Caption        = |
  DiseasesDB    = 31669 |
  ICD10          = |
  ICD9          = |
  ICDO          = |
  OMIM          = 156400 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = |
}}
'''Jansen's Metaphyseal Chondrodysplasia''' or '''JMC''' is a disease of the [[parathyroid hormone receptor]]s.


It is extremely rare and as of 2007 there are only 17 ''reported'' cases world-wide.
{{SK}} JMC; Jansen disease; Jansen metaphyseal dysostosis; Jansen type of metaphyseal chondrodysplasia; Murk Jansen type of metaphyseal chondrodysplasia


==Presentation==
==Overview==
It causes short stature, with normal [[epiphyseal plate]]s but disorganized [[metaphyseal]]  regions.  [[Hypercalcemia]] (Elevated levels of calcium in the blood) is often associated with Jansen's, but is not necessarily indicative of JMC.
Jansen's metaphyseal chondrodysplasia (JMC) is a rare disease that results from ligand-independent activating mutation of the type 1 of the [[parathyroid hormone receptor]] (PTHR1).


Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a high arched palate, [[micrognathia]] or abnormal smallness of the jaws - particularly the lower (mandible) jaw, [[choana]]l [[stenosis]], wide [[cranial sutures]] and irregular formation of the long bones which can resemble [[rickets]].
==Historical Perspective==
It is named for Murk Jansen.<ref>Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.</ref><ref name="pmid3562109">{{cite journal |author=Silverthorn KG, Houston CS, Duncan BP |title=Murk Jansen's metaphyseal chondrodysplasia with long-term followup |journal=Pediatric radiology |volume=17 |issue=2 |pages=119–123 |year=1987 |pmid=3562109 |doi=10.1007/BF02388087}}</ref>


== Synonyms ==
==Pathophysiology==
* Murk Jansen Type Metaphyseal Chondrodysplasia
Jansen's metaphyseal chondrodysplasia is caused by constitutively active mutations in the parathyroid hormone-1 receptor on chromosome 3p21.
* Jansen Metaphyseal Dysostosis
* Jansen Disease
* JMC


==Eponym==
==Presentation==
It is named for Murk Jansen.<ref>Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.</ref><ref name="pmid3562109">{{cite journal |author=Silverthorn KG, Houston CS, Duncan BP |title=Murk Jansen's metaphyseal chondrodysplasia with long-term followup |journal=Pediatric radiology |volume=17 |issue=2 |pages=119-23 |year=1987 |pmid=3562109 |doi=}}</ref>
Jansen's metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent cheeks, and small mandible. Other dysmorphic features associated with JMC include: prominent or protruding eyes, hypertelorism, high skull vault, high arched palate, [[micrognathia]] or abnormal smallness of the jaws - particularly the lower (mandible) jaw, [[choana|choanal]] [[atresia]], wide [[cranial sutures]] and irregular formation of the long bones which can resemble [[rickets]].  [[Nephrocalcinosis]] is also commonly seen.
 
== Related Links ==


* [http://www.orpha.net/data/patho/GB/uk-JansensMetaphChondrodysplasia.pdf '''Metaphyseal chondrodysplasia, Jansen type''' -- OrphaNet Information]
==Laboratory Findings==
Hypercalcemia and hypophosphatemia occur despite undetectable serum levels of [[parathryoid hormone|parathryoid hormone (PTH)]]. Examination of the bone reveals normal [[epiphyseal plate]]s but disorganized [[metaphyseal]] regions. Elevated urinary calcium and phosphorus are generally found in JMCThe absence of hypercalcemia does not eliminate the disease from consideration.


* [http://www.orpha.net/  '''OrphaNet''' Home]
==Treatment==
 
There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of [[bisphosphonates]].
* [http://www.indianpediatrics.net/april2000/april-435-440.htm  '''Jansen’s Metaphyseal Chondrodysplasia, Case Report''', Indian Pediatrics]
 
* [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jansen%20Type%20Metaphyseal%20Chondrodysplasia%20  '''Jansen Type Metaphyseal Chondrodysplasia''' -- National Organization for Rare Disorders  (NORD)]
 
* [http://jcem.endojournals.org/cgi/content/abstract/84/9/3052?ck=nck  '''A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia''', The Journal of Clinical Endocrinology & Metabolism (1)]
 
* [http://jcem.endojournals.org/cgi/content/full/89/7/3595  '''A Form of Jansen’s Metaphyseal Chondrodysplasia with Limited Metabolic and Skeletal Abnormalities Is Caused by a Novel Activating Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation''', The Journal of Clinical Endocrinology & Metabolism (2)]
 
* [http://content.nejm.org/cgi/content/full/335/10/708?ijkey=e505b35fd6c285acdebb5d250a337bceb5ac4fe4 '''Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia''', The New England Journal of Medicine]
 
* [http://mend.endojournals.org/cgi/content/full/11/7/851  '''Constitutive Activation of the Cyclic Adenosine 3',5'-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen’s Metaphyseal Chondrodysplasia''', Molecular Endocrinology ]
 
* [http://www.genome.jp/dbget-bin/www_bget?omim+156400  '''METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE''' GenomeNet]
 
* [http://www.springerlink.com/content/4808n1k81m0x2m52/ (Abstract Only - '''Murk Jansen's metaphyseal chondrodysplasia with long-term followup''' (Pediatric Radiology) ]
 
== Resources ==
* [http://www.lpaonline.org  Little People of America, Inc.]
* [http://www.hgfound.org/  Human Growth Foundation ]
* [http://www.magicfoundation.org  MAGIC Foundation for Children's Growth]
* [http://www.niams.nih.gov  NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse]
* [http://www.craniofacialcenter.com  Craniofacial Foundation of America]


==References==
==References==
{{reflist|2}}
{{Reflist|2}}


[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Growth disorders]]
[[Category:Growth disorders]]
{{WikiDoc Sources}}
[[Category:Cell surface receptor deficiencies]]
[[Category:Rare diseases]]
 
{{Osteochondrodysplasia}}
{{WH}}
{{WS}}

Latest revision as of 21:11, 10 August 2013

WikiDoc Resources for Jansen's metaphyseal chondrodysplasia

Articles

Most recent articles on Jansen's metaphyseal chondrodysplasia

Most cited articles on Jansen's metaphyseal chondrodysplasia

Review articles on Jansen's metaphyseal chondrodysplasia

Articles on Jansen's metaphyseal chondrodysplasia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Jansen's metaphyseal chondrodysplasia

Images of Jansen's metaphyseal chondrodysplasia

Photos of Jansen's metaphyseal chondrodysplasia

Podcasts & MP3s on Jansen's metaphyseal chondrodysplasia

Videos on Jansen's metaphyseal chondrodysplasia

Evidence Based Medicine

Cochrane Collaboration on Jansen's metaphyseal chondrodysplasia

Bandolier on Jansen's metaphyseal chondrodysplasia

TRIP on Jansen's metaphyseal chondrodysplasia

Clinical Trials

Ongoing Trials on Jansen's metaphyseal chondrodysplasia at Clinical Trials.gov

Trial results on Jansen's metaphyseal chondrodysplasia

Clinical Trials on Jansen's metaphyseal chondrodysplasia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Jansen's metaphyseal chondrodysplasia

NICE Guidance on Jansen's metaphyseal chondrodysplasia

NHS PRODIGY Guidance

FDA on Jansen's metaphyseal chondrodysplasia

CDC on Jansen's metaphyseal chondrodysplasia

Books

Books on Jansen's metaphyseal chondrodysplasia

News

Jansen's metaphyseal chondrodysplasia in the news

Be alerted to news on Jansen's metaphyseal chondrodysplasia

News trends on Jansen's metaphyseal chondrodysplasia

Commentary

Blogs on Jansen's metaphyseal chondrodysplasia

Definitions

Definitions of Jansen's metaphyseal chondrodysplasia

Patient Resources / Community

Patient resources on Jansen's metaphyseal chondrodysplasia

Discussion groups on Jansen's metaphyseal chondrodysplasia

Patient Handouts on Jansen's metaphyseal chondrodysplasia

Directions to Hospitals Treating Jansen's metaphyseal chondrodysplasia

Risk calculators and risk factors for Jansen's metaphyseal chondrodysplasia

Healthcare Provider Resources

Symptoms of Jansen's metaphyseal chondrodysplasia

Causes & Risk Factors for Jansen's metaphyseal chondrodysplasia

Diagnostic studies for Jansen's metaphyseal chondrodysplasia

Treatment of Jansen's metaphyseal chondrodysplasia

Continuing Medical Education (CME)

CME Programs on Jansen's metaphyseal chondrodysplasia

International

Jansen's metaphyseal chondrodysplasia en Espanol

Jansen's metaphyseal chondrodysplasia en Francais

Business

Jansen's metaphyseal chondrodysplasia in the Marketplace

Patents on Jansen's metaphyseal chondrodysplasia

Experimental / Informatics

List of terms related to Jansen's metaphyseal chondrodysplasia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: JMC; Jansen disease; Jansen metaphyseal dysostosis; Jansen type of metaphyseal chondrodysplasia; Murk Jansen type of metaphyseal chondrodysplasia

Overview

Jansen's metaphyseal chondrodysplasia (JMC) is a rare disease that results from ligand-independent activating mutation of the type 1 of the parathyroid hormone receptor (PTHR1).

Historical Perspective

It is named for Murk Jansen.[1][2]

Pathophysiology

Jansen's metaphyseal chondrodysplasia is caused by constitutively active mutations in the parathyroid hormone-1 receptor on chromosome 3p21.

Presentation

Jansen's metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent cheeks, and small mandible. Other dysmorphic features associated with JMC include: prominent or protruding eyes, hypertelorism, high skull vault, high arched palate, micrognathia or abnormal smallness of the jaws - particularly the lower (mandible) jaw, choanal atresia, wide cranial sutures and irregular formation of the long bones which can resemble rickets. Nephrocalcinosis is also commonly seen.

Laboratory Findings

Hypercalcemia and hypophosphatemia occur despite undetectable serum levels of parathryoid hormone (PTH). Examination of the bone reveals normal epiphyseal plates but disorganized metaphyseal regions. Elevated urinary calcium and phosphorus are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.

Treatment

There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates.

References

  1. Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.
  2. Silverthorn KG, Houston CS, Duncan BP (1987). "Murk Jansen's metaphyseal chondrodysplasia with long-term followup". Pediatric radiology. 17 (2): 119–123. doi:10.1007/BF02388087. PMID 3562109.

Template:Osteochondrodysplasia Template:WH Template:WS