Aarskog-Scott syndrome is a genetic condition characterised by short stature and specific features of the face, skeletal structure, muscles, and genitals.^1-3 There may also be learning difficulties and behavioural issues.^2,4

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 syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia²

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:915 Aarskog-Scott syndrome

ICD-11: LD2F.1Y Other specified syndromes with multiple structural anomalies, not of environmental origin

Aarskog-Scott syndrome may affect an individual’s facial structure and appearance, height, skeletal structure, genitals and muscles.¹

Features of Aarskog-Scott syndrome can vary between individuals and may include short stature, shortened fingers and toes (brachydactyly), facial features such as increased spacing between eyes (hypertelorism), shorter and upturned nose (anteverted nostrils), droopy upper eyelid (ptosis), V-shaped hairline (widow’s peak), long groove in the upper lip (long philtrum) and others, as well as genital and eye abnormalities and cardiovascular defects.^2-6

There may also be learning difficulties and behavioural issues in early childhood.^2-4

There may be other features of Aarskog-Scott syndrome that has not been mentioned here. Please speak to your medical team to learn more about the features of Aarskog-Scott syndrome.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Aarskog-Scott syndrome is a genetic condition.

For some individuals, Aarskog-Scott syndrome is caused by disease-causing genetic variants (changes) in the FYVE, RhoGEF and PH domain containing 1 (FGD1) gene on the X chromosome (X-linked condition). As males only have one X chromosome, they have one copy of the FGD1 gene, so if their FGD1 gene has the disease-causing genetic variant, this would result in Aarskog-Scott syndrome. Females have two X chromosomes and two copies of FGD1 gene – if at least one of their copies has the disease-causing genetic variant, they may be affected, with symptoms in females varying from severely affected to mild or no symptoms (asymptomatic). These genetic variants can be inherited (passed on to the next generation). More information on X-linked inheritance pattern can be found at Centre for Genetics Education: X-linked inheritance.

There are cases where no mutations in the FGD1 gene have been found and other patterns of inheritance have also been reported;³ 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

A diagnosis of Aarskog-Scott syndrome may be considered based on presence of characteristic features and family history.^2,4

Genetic testing for disease-causing genetic variants in the FGD1 gene can be used to confirm some cases of Aarskog-Scott syndrome.^2,3

A differential diagnosis can rule out other conditions that have similar symptoms, such as Noonan syndrome, SHORT syndrome, pseudohypoparathyroidism and Robinow syndrome.^2,5

Please speak to your medical team to learn more about the available diagnostic pathways for Aarskog-Scott syndrome.

There is currently no curative treatment for Aarskog-Scott syndrome.² Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team.⁴  This may include evaluation and treatment of eye abnormalities as well as dental and hearing issues and speech therapy. Surgery may be used to treat some of the structural abnormalities, if necessary.⁴ 

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of Aarskog-Scott syndrome may include general practitioners (GP), paediatricians, geneticists, neurologists, surgeons, cardiologists, dental specialists, audiologists, ophthalmologists and speech therapists.^1,4 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

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. 

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for Aarskog-Scott syndrome in Australia or internationally. 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, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

Genetics Alliance Australia (GAA) 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 monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Aarskog-Scott syndrome varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

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.

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:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Aarskog-Scott syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Faciodigitogenital syndrome
• National Organisation for Rare Disorders (NORD): Aarskog Syndrome

• Online Mendelian Inheritance in Man, OMIM^®: #305400 Aarskog-Scott Syndrome; AAS
• Orphanet: Aarskog Scott syndrome
• Human Phenotype Ontology (HPO): Aarskog-Scott Syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

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 inaccurate information, please let us know via the Contribute page.