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.
- 1. Sepulveda W, Dezerega V, Horvath E et-al. Prenatal sonographic diagnosis of Aarskog syndrome. J Ultrasound Med. 1999;18 (10): 707-10. J Ultrasound Med (abstract) - Pubmed citation
- 2. Taub MB, 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 citation
- 3. Brodsky MC, Keppen LD, Rice CD et-al. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome. Am. J. Ophthalmol. 1990;109 (4): 450-6. - Pubmed citation
- 4. Teebi AS, Naguib KK, Al-Awadi S et-al. New autosomal recessive faciodigitogenital syndrome. J. Med. Genet. 1988;25 (6): 400-6. Free text at pubmed - Pubmed citation
- 5. Swischuk LE. Imaging of the newborn, infant, and young child. Lippincott Williams & Wilkins. (2004) ISBN:0781734584. Read it at Google Books - Find it at Amazon
- 6. Ahmed A, Ahmed MA, Ahmed RA, Ahmed HU, Ahmed. Identifying Aarskog Syndrome. (2016) Journal of clinical and diagnostic research : JCDR. 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 CI. Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. (1971) Birth defects original article series. 7 (6): 240-6. Pubmed
- 9. Hoover-Fong J, Scott CI, Jones MC. Health Supervision for People With Achondroplasia. (2020) Pediatrics. doi:10.1542/peds.2020-1010 - Pubmed