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.
For more information on this rare disease, please refer to Genetic and Rare Diseases (GARD) Information Center – Aarskog-Scott syndrome1 and Orphanet: Aarskog-Scott syndrome.2
There are currently no known organisations in Australia specifically for this rare disease. If you know of any rare disease organisation/s supporting people living with Aarskog-Scott syndrome, please let us know via the Contribute page. If you are interested in starting an Australian organisation for people living with Aarskog-Scott syndrome, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.
If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or misleading information, please let us know via the Contribute page.
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Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Social Services | Mental Health | Other | References
There may be special considerations for the emergency management of individuals living with Aarskog-Scott syndrome presenting to emergency departments.
Clinical Care Guidelines
Clinical Care Guidelines for Aarskog-Scott syndrome are yet to be developed in Australia.
Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia; AAS
ICD-11: LD2F.1Y Other specified syndromes with multiple structural anomalies, not of environmental origin
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
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 symptoms and complications of Aarskog-Scott syndrome.
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
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 on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.
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.
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.
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.
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
Contact form: https://www.aarskogsyndromefoundation.co.uk/about.html
Genetics Alliance Australia (GAA), Genetic Support Network of Victoria (GSNV) and Syndromes Without A Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific organisation in Australia.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Please visit the National and State Services pages.
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Further information on Aarskog-Scott syndrome can be found at:
- 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/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=915
- OMIM – Online Mendelian Inheritance in Man. #305400 – AARSKOG-SCOTT SYNDROME; AAS. Accessed July 12, 2023. https://www.omim.org/entry/305400
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