Citation, DOI & article data
Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.
Population prevalence is estimated to be 1/25,000, with a male predominance.
The major manifestations of this syndrome include:
- short stature
- decreased bone age
- craniofacial anomalies
- ocular ophthalmic anomalies 2
- limb abnormalities
- genital anomalies
- supernumerary ribs
It commonly carries an X-linked inheritance. However, sex-influenced autosomal dominant inheritance is also seen in some families. The FDG1 gene on the X-chromosome is the only known gene associated with Aarskog syndrome, implicated in 22% of affected males.
History and etymology
A Norwegian pediatric endocrinologist, Dagfinn Aarskog, first described the syndrome that now bears his name 6,7 in 1970. In the following year Charles I Scott, Jr, a still practising (fl. 2021) pediatrician in the USA described similar imaging findings 8,9.
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- 2. Taub M & Stanton A. Aarskog Syndrome: A Case Report and Literature Review. Optometry. 2008;79(7):371-7. doi:10.1016/j.optm.2007.10.010 - Pubmed
- 3. Brodsky M, Keppen L, Rice C, Ranells J. Ocular and Systemic Findings in the Aarskog (Facial-Digital-Genital) Syndrome. Am J Ophthalmol. 1990;109(4):450-6. doi:10.1016/s0002-9394(14)74612-4 - Pubmed
- 4. Teebi A, Naguib K, Al-Awadi S, Al-Saleh Q. New Autosomal Recessive Faciodigitogenital Syndrome. J Med Genet. 1988;25(6):400-6. doi:10.1136/jmg.25.6.400 - Pubmed
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- 6. Ahmed A, Mufeed A, Ramachamparambathu A, Hasoon U. Identifying Aarskog Syndrome. J Clin Diagn Res. 2016;10(12):ZD09-11. doi:10.7860/JCDR/2016/22180.8982 - Pubmed
- 7. Bruno Bissonnette, Igor Luginbuehl, Bernard J. Dalens, Bruno Marciniak. Syndromes: Rapid Recognition and Perioperative Implications. (2006)
- 8. Scott C. Unusual Facies, Joint Hypermobility, Genital Anomaly and Short Stature: A New Dysmorphic Syndrome. Birth Defects Orig Artic Ser. 1971;7(6):240-6. - Pubmed
- 9. Hoover-Fong J, Scott C, Jones M, Jones M. Health Supervision for People With Achondroplasia. Pediatrics. 2020;145(6):e20201010. doi:10.1542/peds.2020-1010 - Pubmed