Short answer · Medically reviewed summary · Last updated: 2026-05-08
Aarskog-Scott syndrome, also known as faciodigitogenital syndrome, is classified under the ICD-10 code Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) and the ICD-9 code 759.89 (Other specified congenital anomalies). These codes are used for medical billing and tracking the clinical presentation of Aarskog-Scott syndrome in healthcare systems worldwide. What is the clinical presentation of Aarskog-Scott syndrome? Aarskog-Scott syndrome is a rare genetic disorder characterized by a combination of short stature, facial abnormalities, and genital and skeletal malformations.
ICD10 code of Aarskog-Scott Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Aarskog-Scott Syndrome, with classification details for clinicians, coders and patients.
Aarskog-Scott syndrome, also known as faciodigitogenital syndrome, is classified under the ICD-10 code Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) and the ICD-9 code 759.89 (Other specified congenital anomalies). These codes are used for medical billing and tracking the clinical presentation of Aarskog-Scott syndrome in healthcare systems worldwide.
What is the clinical presentation of Aarskog-Scott syndrome?
Aarskog-Scott syndrome is a rare genetic disorder characterized by a combination of short stature, facial abnormalities, and genital and skeletal malformations. Individuals with Aarskog-Scott syndrome often present with a widow's peak hairline, widely spaced eyes (hypertelorism), and a shawl scrotum. While the severity of Aarskog-Scott syndrome varies significantly between patients, early recognition of these physical features is key to clinical management.
How is Aarskog-Scott syndrome inherited?
Aarskog-Scott syndrome typically follows an X-linked recessive pattern of inheritance caused by mutations in the FGD1 gene. Because it is X-linked, Aarskog-Scott syndrome most severely affects males, though females can occasionally exhibit mild symptoms. Genetic counseling is highly recommended for families navigating an Aarskog-Scott syndrome diagnosis to understand recurrence risks.
What are the common features associated with Aarskog-Scott syndrome?
The clinical manifestations of Aarskog-Scott syndrome involve multiple systems. Key features include:
- Facial: Hypertelorism, down-slanting palpebral fissures, and a broad upper lip.
- Skeletal: Brachydactyly (short fingers), clinodactyly (curved fingers), and sometimes cervical spine anomalies.
- Genital: Shawl scrotum, which is a hallmark diagnostic sign of Aarskog-Scott syndrome.
- Growth: Proportionate short stature, often becoming more noticeable during childhood.
Next steps
- Consult with a clinical geneticist to confirm a diagnosis of Aarskog-Scott syndrome through FGD1 gene sequencing.
- Connect with the 2 members currently sharing their experiences with Aarskog-Scott syndrome on DiseaseMaps.org to find peer support.
- Schedule regular multidisciplinary check-ups, including evaluations by pediatric endocrinologists and orthopedists.
Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the guidance of a qualified healthcare professional regarding any medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Aarskog-Scott syndrome.
- Orphanet: Faciodigitogenital syndrome (ORPHA:105).
- OMIM (Online Mendelian Inheritance in Man): Aarskog-Scott syndrome (#305400).
- National Library of Medicine (MedlinePlus): Aarskog-Scott syndrome overview.
