Developmental Anomalies
Aarskog-Scott Syndrome
Rare Disease Classifications:
IMPORTANT INFORMATION
The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
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Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References
Emergency Management
There may be special considerations for the emergency management of individuals living with Aarskog-Scott syndrome presenting to emergency departments.
Clinical Care Guidelines
We are not aware of any clinical care guidelines for Aarskog-Scott syndrome in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.
Synonyms
Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia; AAS
Summary
Aarskog-Scott syndrome is a genetic condition characterised by short stature and specific features of the face, skeletal structure, muscles, and genitals.1,2 There may also be learning difficulties and behavioural issues in early childhood.2
Aarskog-Scott syndrome tends to affect mostly males.2 It can be caused by mutations in the FGD1 gene on the X chromosome, but there may be other causes yet to be identified.1,2
Personal Stories
Aarskog-Scott syndrome varies between individuals, and each person’s experience is unique.
If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.
Symptoms
Aarskog-Scott syndrome may affect an individual’s facial structure and appearance, height, skeletal structure, genitals and muscles.1 There may also be learning difficulties and behavioural issues in early childhood.2
Human Phenotype Ontology: Aarskog-Scott syndrome has more information about clinical symptoms associated with Aarskog-Scott syndrome.
Please speak to your medical team to learn more about the signs and symptoms of Aarskog-Scott syndrome.
Cause/Inheritance
Aarskog-Scott syndrome can be caused by a mutation in the FYVE, RhoGEF and PH domain containing 1 (FGD1) gene on the X chromosome and usually shows an X-linked recessive pattern of inheritance.3
Factsheet: X-linked recessive inheritance (NSW Government Health: Centre for Genetics Education)
Other patterns of inheritance have also been reported.3 There are cases where no mutations in the FGD1 gene have been found; there may be other causal genes for Aarskog-Scott syndrome that remain to be identified.1,2
If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:
- Information on Genetic Services
- The National and State Services pages underneath the ‘Genetic Counselling’ sections listed
Diagnosis
Diagnosis of Aarskog-Scott syndrome is made based on clinical features.2
Mutations in the FGD1 gene, which can be detected by genetic testing, are associated with some cases of Aarskog-Scott syndrome.1,2
Please speak to your medical team to learn more about diagnosis of Aarskog-Scott syndrome.
Treatment
There is no curative treatment for Aarskog-Scott syndrome (AAS), but there are strategies to manage the symptoms, which may involve a multidisciplinary medical team.
Please speak with your medical team to learn more about management strategies for AAS and its associated symptoms. Treatment will depend on an individual’s specific symptoms.
Clinical Care
Healthcare professionals involved in the treatment of Aarskog-Scott syndrome may include general practitioners (GP), geneticists and neurologists.1 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Research and Data
Please visit Australian Clinical Trials to learn about clinical trials for Aarskog-Scott syndrome in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for Aarskog-Scott syndrome in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.
It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.
Rare Disease Organisation(s)
There are currently no known organisations for Aarskog-Scott syndrome in Australia. If you are aware of any Aarskog-Scott syndrome organisations in Australia, please let us know via the Contribute page.
Global organisation supporting Aarskog-Scott syndrome:
The Aarskog Foundation
Website: https://www.aarskogsyndromefoundation.co.uk/
Email: [email protected]
Contact form: https://www.aarskogsyndromefoundation.co.uk/about.html
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Support Services/Resources
For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.
Mental Health
People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful.
Information about relevant mental health and wellbeing support can be found at:
- RARE Portal: Mental Health and Wellbeing Support for Australians Living with a Rare Disease
- The National and State Services pages underneath the ‘Mental Health’ sections listed
Other
Further information on Aarskog-Scott syndrome can be found at:
References
- Genetic and Rare Diseases (GARD) Information Center. Aarskog-Scott syndrome. Accessed July 12, 2023. https://rarediseases.info.nih.gov/diseases/4775/aarskog-scott-syndrome
- Orphanet. Aarskog-Scott syndrome. Accessed July 12, 2023. https://www.orpha.net/en/disease/detail/915
- OMIM – Online Mendelian Inheritance in Man. #305400 – AARSKOG-SCOTT SYNDROME; AAS. Accessed July 12, 2023. https://www.omim.org/entry/305400
Page Last Updated
22/08/2024 11:17
