Clinical Signs and Symptoms
ORPHA:1855 Spondyloenchondrodysplasia
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.
- Antinuclear antibody positivity HP:0003493
- Metaphyseal dysplasia HP:0100255
- Platyspondyly HP:0000926
Very frequent
- Anti-dsDNA antibody positivity HP:0020151
- Autoimmunity HP:0002960
- Brain imaging abnormality HP:0410263
- Chronic kidney disease HP:0012622
- Short stature HP:0004322
- Spasticity HP:0001257
Frequent
- Abnormal periventricular white matter morphology HP:0002518
- Abnormality of lateral ventricle HP:0030047
- Abnormality of the nervous system HP:0000707
- Arthritis HP:0001369
- Autoimmune hemolytic anemia HP:0001890
- Autoimmune thrombocytopenia HP:0001973
- Bowing of the legs HP:0002979
- Cerebral calcification HP:0002514
- Chorea HP:0002072
- Delayed eruption of teeth HP:0000684
- Dental malocclusion HP:0000689
- Disproportionate short-trunk short stature HP:0003521
- Enchondroma HP:0030038
- Global developmental delay HP:0001263
- Granuloma HP:0032252
- Headache HP:0002315
- Hematuria HP:0000790
- Hepatitis HP:0012115
- Hypertension HP:0000822
- Hypoplastic ilia HP:0000946
- Intellectual disability HP:0001249
- Juvenile rheumatoid arthritis HP:0005681
- Limb undergrowth HP:0009826
- Lower limb pain HP:0012514
- Motor delay HP:0001270
- Myalgia HP:0003326
- Proteinuria HP:0000093
- Raynaud phenomenon HP:0030880
- Recurrent infections HP:0002719
- Short distal phalanx of finger HP:0009882
- Systemic lupus erythematosus HP:0002725
- Vasculitis HP:0002633
- Ventriculomegaly HP:0002119
Occasional
- Decreased response to growth hormone stimulation test HP:0000824
- Hypothyroidism HP:0000821
- Kyphosis HP:0002808
- Midface retrusion HP:0011800
- Pancytopenia HP:0001876
- Pectus carinatum HP:0000768
- Pneumonia HP:0002090
- Seizure HP:0001250
- Skin rash HP:0000988
- Vitiligo HP:0001045
Rare
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.