Kniest Dysplasia
Table of contents:
Description
Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).
Clinical Features
Top most frequent phenotypes and symptoms related to Kniest Dysplasia
- Short stature
- Hearing impairment
- Scoliosis
- Micrognathia
- Cleft palate
- Pain
- Cataract
- Ptosis
- Flexion contracture
- Depressed nasal bridge
And another 63 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VOGT-KOYANAGI-HARADA DISEASE REYNOLDS SYNDROME CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5