Short answer · Medically reviewed summary · Last updated: 2026-05-08
Kniest dysplasia is classified under the ICD-10-CM code Q77.7 (Spondyloepiphyseal dysplasia) and the ICD-9-CM code 756.51 (Hurler's syndrome/osteochondrodysplasia). These codes are used for medical billing and tracking the diagnosis of Kniest dysplasia within clinical and research databases. What is the clinical presentation of Kniest dysplasia? Kniest dysplasia is a rare skeletal disorder characterized by disproportionate short stature, enlarged joints, and significant spinal abnormalities.
1 people with Kniest Dysplasia have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Kniest Dysplasia and ICD9 code
ICD-10 and ICD-9 codes for Kniest Dysplasia, with classification details for clinicians, coders and patients.
Kniest dysplasia is classified under the ICD-10-CM code Q77.7 (Spondyloepiphyseal dysplasia) and the ICD-9-CM code 756.51 (Hurler's syndrome/osteochondrodysplasia). These codes are used for medical billing and tracking the diagnosis of Kniest dysplasia within clinical and research databases.
What is the clinical presentation of Kniest dysplasia?
Kniest dysplasia is a rare skeletal disorder characterized by disproportionate short stature, enlarged joints, and significant spinal abnormalities. Individuals living with Kniest dysplasia often experience a "dumbbell-shaped" appearance of the long bones and a distinctive facial appearance. Because Kniest dysplasia affects connective tissue, patients frequently face challenges related to vision, such as high myopia, and hearing loss, which require multidisciplinary management.
Is Kniest dysplasia hereditary?
Yes, Kniest dysplasia is an autosomal dominant condition caused by mutations in the COL2A1 gene. This gene provides instructions for making type II collagen, which is essential for the development of cartilage and the vitreous humor of the eye. Because Kniest dysplasia follows an autosomal dominant pattern, a person with the condition has a 50% chance of passing the mutation to each offspring. However, many cases of Kniest dysplasia occur due to a *de novo* (spontaneous) mutation in the individual, with no prior family history.
What are the common clinical features?
The clinical spectrum of Kniest dysplasia varies significantly between individuals. Key features often documented by our 20 community members at DiseaseMaps.org include:
- Skeletal: Severe short stature, kyphoscoliosis, and limited joint mobility.
- Ocular: High myopia (nearsightedness) and an increased risk of retinal detachment.
- Auditory: Conductive or sensorineural hearing loss.
- Respiratory: Potential for airway complications due to thoracic dysplasia.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis via COL2A1 genetic testing.
- Schedule regular evaluations with an orthopedic surgeon, ophthalmologist, and audiologist.
- Connect with the 20 members of the DiseaseMaps.org Kniest dysplasia community to share lived experiences.
- Inquire about physical therapy programs specifically tailored for skeletal dysplasias to maintain joint function.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Kniest dysplasia (GARD ID: 6867).
- Orphanet: Kniest dysplasia (ORPHA:248).
- OMIM (Online Mendelian Inheritance in Man): Spondyloepiphyseal dysplasia, Kniest type (#156550).
- Little People of America (LPA): Medical resources for skeletal dysplasias.
Posted Oct 31, 2018 by Shere 2500
