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.
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 possible in some families.
- 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