Aarskog Syndrome (AS) is also known as Aarskog-Scott Syndrome or less commonly, Facio-digito-genital Syndrome or Faciogenital Dysplasia. AS is a rare condition that affects predominantly males. It affects development and is characterized by abnormalities in the face, skeleton, and genitals. General features include short stature, webbed appearance of hands and feet, hyperflexible joints, short and inwardly curved little finger, and delayed puberty. The face may be more round with upper eyelid drooping over the eye, a broad nose bridge, and longer upper lip. There are also differences in side of the mouth with possible missing teeth. The spine may be affected as well and the foot may be more flat.1 2 3 4 5
AS may often be undiagnosed due to its rareness as well as the lack of knowledge of the condition. The most striking features that may provide hints of this are the teeth, which play a key role in the diagnosis of Aarskog syndrome. Overall, management of this condition will require a team-based approach involving the pediatrician, surgeons, dentists, neuropsychiatric, and therapists such as occupational therapists.6
Occupational therapists aim to improve the daily activities (occupations) of people across their lifespan to promote their quality of life, and prevent disruptions in lifestyle, and losses of function.7
One area that may often be impacted for children with Aarskog syndrome is play during their development. Early intervention through occupational therapy has been found to be beneficial in supporting children with developmental disabilities. Through the use of toys, social interaction with peers, and structured support by adults such as parents and the therapist, the OT can promote learning through play and exploration.8
While most of these symptoms affect physical appearance and may not necessarily have an effect on physical function, occupational therapists can still play an important role in those diagnoses (or undiagnosed, but suspected) with Aarskog Syndrome. One area is the treatment of difficulty with hand function, such as difficulty opening of the hands due to tightening of the muscles. This is known as contractures. More specifically, OTs can treat these contractures with a combined approach of using hand splints and therapy to improve range of motion and function.9 Symptoms such as shortened fingers may affect everyday tasks such as eating, grooming, dressing, toileting, and bathing, also known as activities of daily living (ADLs). Occupational therapists can work directly with clients to promote the function of their ADLS despite these symptoms. This can be through practice, modification of tasks, the environment, or exercise and strengthening.
While most of the symptoms often reported for AS are physical, there are “invisible” difficulties as well. One of these includes slowness of thinking or mental slowness. Most people with AS have good social skills, but this slowed thinking may affect everyday function. This has mental health implications as well as people with AS may experience insecurities, anxiety, depression, and low self-esteem. Mentally, there may be seizures as well and OTs can help to educate the patient and their families how to safely navigate everyday life despite these symptoms.
In terms of mental health, occupational therapists are in a unique position to provide therapy to patients with AS. One major area that OTs can address is low self-esteem. They can use screens and measure levels of self-esteem and then provide individualized holistic treatment tailored to the patient and their needs. As these patients age and develop, one targeted age group that may experience this difficulty is adolescence. OTs frequently address the self-esteem of young patients and can provide effective interventions for this age group. Other areas that can be addressed include self-concept, self-acceptance, and values to overcome barriers in school with scholastic competence, athletic competence, and even romantic appeal.10
Other major areas of life participation that occupational therapists can address for patients with Aarskog-Scott syndrome besides ADLs include school, work, play volunteering, leisure, rest and sleep, and health management. One strength of OT is that they collaborate with families and work with not only the client in order to promote success across environments such as in the home and school. Overall, OTs can work with those with AS by providing early intervention from the very young, through school-age, adolescents, adulthood, and older adulthood.
Occupational therapy for adults focuses on helping individuals develop, recover, or maintain the skills needed for daily living, working, and more. Occupational therapists work with patients to identify and overcome barriers to their ability to engage in these activities, and to develop strategies for achieving their goals. They may also use adaptive equipment and technology, and teach patients how to use it, to help them compensate for any physical or cognitive limitations. Occupational therapists may also work to improve fine motor skills, such as hand-eye coordination and dexterity, which can be affected by Aarskog syndrome. Occupational therapists can work with individuals with Aarskog syndrome to improve their attention, memory, and problem-solving skills, as well as to develop adaptive strategies for managing any learning difficulties that continue into adulthood.
Occupational therapists may also work with individuals with Aarskog syndrome to address any specific concerns or issues that may arise that are unique to them. For example, some individuals with Aarskog syndrome may have difficulty with vision or hearing which make everyday living a challenge, so occupational therapists may work with them to improve their perceptual skills and to teach them how to use adaptive equipment to compensate for any visual or auditory impairments.
Occupational therapists may also work with individuals with Aarskog syndrome to address any issues related to sensory processing. Some individuals with Aarskog syndrome may be oversensitive or undersensitive to certain types of sensory input, such as touch, sound, or light, which can affect their ability to perform daily activities. Occupational therapists can use techniques such as sensory integration therapy to help individuals with Aarskog syndrome learn to process and respond appropriately to different types of sensory input.
Overall, occupational therapy can be an effective treatment for individuals with Aarskog syndrome. It can help them develop the skills they need to live independently and participate in daily activities, and to manage any physical, cognitive or social challenges that may arise across the lifespan.
- Orrico A, Galli L, Clayton-Smith J, Jean-Pierre F. Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia) – update 2015. Eur J of Hum Genet. 2015;23(4)
- Bozorgmehr B, Kariminejad A, Hadavi V, Kariminejad MH. Aarskog–Scott syndrome: Report of 7 cases and review of literature. Genetics in the third millennium. 2006;4:954–56.
- ones KL. Smith’s recognizable patterns of human malformations. 6th ed. W.B. Saunders Company; 2006. pp. 134–35.
- Luciane QC, Maximiano T, Caroline D, Daniele PC, Ivana AV. Aarskog-Scott syndrome: A review and case report. Int J Clin Pediatr Dent. 2012;5(3):209–12.
- Ruth V-AM, Lurie I W. Atypical case of Aarskog syndrome. J Med Genet. 1992;29:349–50.
- Ahmed, A., Mufeed, A., Ramachamparambathu, A. K., & Hasoon, U. (2016). Identifying Aarskog Syndrome. Journal of Clinical and Diagnostic Research: JCDR, 10(12), ZD09.
- Hammond, A. (2004). What is the role of the occupational therapist?. Best practice & research Clinical rheumatology, 18(4), 491-505.
- Dall’Alba, L., Gray, M., Williams, G., & Lowe, S. (2014). Early intervention in children (0–6 years) with a rare developmental disability: The occupational therapy role. Hong Kong Journal of Occupational Therapy, 24(2), 72-80.
- Griffin, L. B., Farley, F. A., Antonellis, A., & Keegan, C. E. (2016). A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures. Molecular Case Studies, 2(4), a000943.
- Gillian A. King, Izabela Z. Shultz, Kathleen Steel, Michelle Gilpin, Tamzin Cathers; Self-Evaluation and Self-Concept of Adolescents With Physical Disabilities. Am J Occup Ther February 1993, Vol. 47(2), 132–140. doi: https://doi.org/10.5014/ajot.47.2.132