Aarskog syndrome

Common Name(s)

Aarskog syndrome, Aarskog-Scott syndrome, Faciodigitogential syndrome, Faciogential dysplasia

Aarskog syndrome is a genetic condition that affects a person’s physical and mental development. Features of this condition include unique facial features, such as wide-set eyes (hypertelorism), a small nose, and a widow’s peak, as well as short fingers (brachydactyly) and extra skin between the fingers (syndactyly). Other features of this syndrome can include heart abnormalities, a cleft lip, and an opening in the roof of the mouth (cleft palate). Males with this condition tend to have abnormalities of the genitals, including a wrapping of the scrotum around the penis (shawl scrotum) or undescended testes. People with Aarskog syndrome may also have mild to severe learning problems.

The genetic cause for many cases of Aarskog syndrome is not known. However, about 20% of the cases are due to a change (mutation) in the FGD1 gene. The FGD1 gene is located on the X chromosome, which means Aarskog is inherited in an X-linked recessive manner. Males have one X chromosome (one copy of the FGD1 gene) and females have two X chromosomes (two copies of the FGD1 gene). When a male has a mutation in his one copy of the gene, he has Aarskog syndrome. When a female has a mutation in one copy, she has another working copy and usually does not show features of the condition. However, occasionally females with a mutation show mild features as well.

Aarskog syndrome is usually considered as a diagnosis in an individual with facial features suggestive of the condition. Genetic testing may be used to confirm the diagnosis. There is not a cure for Aarskog syndrome, but in some cases surgery may be needed to address some of the features. If your child has been diagnosed with Aarskog syndrome, talk to your doctor about treatment options. Meeting with a genetic counselor may be helpful to discuss the diagnosis further. Support groups are a good resource for additional information and to connect with other families who are affected by Aarskog syndrome.

Source: Advocacy organizations associated with the condition.

 

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: 20 Jan 2015

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General Support Organizations

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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: 20 Jan 2015

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 12 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.