Aarskog Syndrome

Common Name(s)

Aarskog Syndrome

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.  Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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The Aarskog Syndrome Parents Support Group

The Aarskog Syndrome Parents Support Group's mission is to supply all persons affected with Aarskog syndrome with information and support via e-mail or regular mail delivery.

Last Updated: 11 Feb 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
The Aarskog Syndrome Parents Support Group

The Aarskog Syndrome Parents Support Group's mission is to supply all persons affected with Aarskog syndrome with information and support via e-mail or regular mail delivery.

Last Updated: 11 Feb 2013

View Details

 

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 "Aarskog Syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

Mania with Aarskog-Scott syndrome.
 

Author(s): Raghavendra B Nayak, L Ambika, G S Bhogale, A Pandurangi

Journal: Indian Pediatr. 2012 Apr;49(4):327-8.

 

Aarskog-Scott syndrome is transmitted as an X-linked trait and affects males. We report a 10-year-old boy presenting with complaints of increased temper tantrums, demanding behavior, grandiose ideas, over familiarity, abusive assaultive behavior and tobacco abuse. On examination, ...

Last Updated: 8 May 2012

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Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
 

Author(s): Alfredo Orrico, Lucia Galli, Jill Clayton-Smith, Jean-Pierre Fryns

Journal: Eur. J. Hum. Genet.. 2011 Nov;19(11):.

 

Last Updated: 20 Oct 2011

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Female counterpart of shawl scrotum in Aarskog-Scott syndrome.
 

Author(s): Suzana G Moraes, G Guerra-Junior, A T Maciel-Guerra

Journal: Int Braz J Urol. ;32(4):459-61.

 

Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.

Last Updated: 6 Sep 2006

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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 "Aarskog Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.