Clinical Signs and Symptoms
ORPHA:85198 Dysspondyloenchondromatosis
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Enlarged joints HP:0003037
- Exostoses HP:0100777
- Generalized joint laxity HP:0002761
- Joint dislocation HP:0001373
- Kyphoscoliosis HP:0002751
- Lower limb asymmetry HP:0100559
- Multiple enchondromatosis HP:0005701
- Pretibial blistering HP:0012221
- Scoliosis HP:0002650
- Short stature HP:0004322
- Skin erosion HP:0200041
- Spondylometaphyseal dysplasia HP:0002657
- Vertebral segmentation defect HP:0003422
Very frequent
- Abnormality of fibula morphology HP:0002991
- Abnormality of ulnar metaphysis HP:0004039
- Anisospondyly HP:0002879
- Delayed skeletal maturation HP:0002750
- Genu valgum HP:0002857
- Metaphyseal enchondromatosis HP:0005868
- Osteoarthritis HP:0002758
- Platyspondyly HP:0000926
Frequent
- Cerebral calcification HP:0002514
- Intellectual disability HP:0001249
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.