Campomelic Dysplasia

Common Name(s)

Campomelic Dysplasia, Camptomelic dysplasia

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. Affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called Pierre-Robin sequence; and other abnormalities. It is caused by mutations in the SOX9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the affected individual. Treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Campomelic Dysplasia" 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 "Campomelic Dysplasia" returned 28 free, full-text research articles on human participants. First 3 results:

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.
 

Author(s): Bala Bhagavath, Lawrence C Layman, Reinhard Ullmann, Yiping Shen, Kyungsoo Ha, Khurram Rehman, Stephen Looney, Paul G McDonough, Hyung-Goo Kim, Bruce R Carr

Journal: Mol. Cell. Endocrinol.. 2014 Aug;393(1-2):1-7.

 

46,XY sex reversal is a rare disorder and familial cases are even more rare. The purpose of the present study was to determine the molecular basis for a family with three affected siblings who had 46,XY sex reversal.

Last Updated: 11 Aug 2014

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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
 

Author(s): Ana Carolina S Fonseca, Adriano Bonaldi, D├ębora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante

Journal:

 

The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the direct disruption of regulatory elements, their separation from SOX9 or ...

Last Updated: 21 May 2013

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Clinical Utility Gene Card for: campomelic dysplasia.
 

Author(s): Gerd Scherer, Bernhard Zabel, Gen Nishimura

Journal: Eur. J. Hum. Genet.. 2013 Jul;21(7):.

 

Last Updated: 13 Jun 2013

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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 "Campomelic Dysplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome.
 

Author(s): A C Offiah, S Mansour, S McDowall, J Tolmie, P Sim, C M Hall

Journal: J. Med. Genet.. 2002 Sep;39(9):e50.

 

Last Updated: 2 Sep 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.