Dysspondyloenchondromatosis
Description
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Clinical Features
Top most frequent phenotypes and symptoms related to Dysspondyloenchondromatosis
- Intellectual disability
- Short stature
- Scoliosis
- Delayed skeletal maturation
- Kyphoscoliosis
- Platyspondyly
- Genu valgum
- Cerebral calcification
- Osteoarthritis
- Joint dislocation
And another 13 symptoms. If you need more information about this disease we can help you.
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.
ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 OROTIC ACIDURIA IMMUNODEFICIENCY 24; IMD24 KOOLEN-DE VRIES SYNDROME; KDVS AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE JOUBERT SYNDROME 20; JBTS20