Short answer · Medically reviewed summary · Last updated: 2026-05-08
Freeman-Sheldon syndrome (FSS), also known as distal arthrogryposis type 2A, 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 by healthcare providers for billing and administrative purposes to track this rare, genetic form of distal arthrogryposis. What is the clinical classification of Freeman-Sheldon syndrome? Freeman-Sheldon syndrome is a rare genetic disorder characterized by a mask-like face, small mouth (microstomia), and joint contractures.
ICD10 code of Freeman Sheldon Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Freeman Sheldon Syndrome, with classification details for clinicians, coders and patients.
Freeman-Sheldon syndrome (FSS), also known as distal arthrogryposis type 2A, 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 by healthcare providers for billing and administrative purposes to track this rare, genetic form of distal arthrogryposis.
What is the clinical classification of Freeman-Sheldon syndrome?
Freeman-Sheldon syndrome is a rare genetic disorder characterized by a mask-like face, small mouth (microstomia), and joint contractures. Within the clinical community, Freeman-Sheldon syndrome is recognized as the most severe form of distal arthrogryposis. While ICD-10 Q87.0 is the primary designation, clinicians sometimes utilize additional codes to describe specific skeletal manifestations or respiratory complications associated with the condition.
Is Freeman-Sheldon syndrome hereditary?
Yes, Freeman-Sheldon syndrome is typically caused by mutations in the MYH3 gene. It usually follows an autosomal dominant inheritance pattern, meaning a single copy of the altered gene is sufficient to cause the condition. However, many cases of Freeman-Sheldon syndrome arise from new (de novo) mutations in individuals with no prior family history. Genetic counseling is highly recommended for families navigating the implications of a Freeman-Sheldon syndrome diagnosis.
What are the primary physical characteristics?
The presentation of Freeman-Sheldon syndrome varies, but most individuals share a distinct set of features that help physicians confirm the diagnosis:
- Craniofacial features: A small mouth (microstomia), high-arched palate, and deep-set eyes.
- Skeletal contractures: Characterized by "whistling face" appearance, ulnar deviation of the fingers, and clubfoot (talipes equinovarus).
- Respiratory concerns: Potential for airway management challenges during surgical procedures due to the small oral aperture.
- Growth patterns: Often associated with short stature and potential for progressive scoliosis.
Next steps
- Consult with a clinical geneticist to confirm the MYH3 mutation through molecular testing.
- Connect with the 32 members of the DiseaseMaps.org community who are living with or caring for someone with Freeman-Sheldon syndrome.
- Coordinate care with a multidisciplinary team including orthopedists, speech therapists, and anesthesiologists familiar with Freeman-Sheldon syndrome protocols.
Medical disclaimer: This information is for educational purposes only and does not substitute professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Freeman-Sheldon syndrome.
- Orphanet: Distal arthrogryposis type 2A (Freeman-Sheldon syndrome).
- OMIM (Online Mendelian Inheritance in Man): #193700 (Freeman-Sheldon syndrome).
- GeneReviews: Distal Arthrogryposis Overview.
