Clinical Signs and Symptoms
ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type
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.
- Abnormality of the metaphysis HP:0000944
- Bowing of the long bones HP:0006487
- Delayed skeletal maturation HP:0002750
- Disproportionate short stature HP:0003498
- Gait disturbance HP:0001288
- Genu varum HP:0002970
- Hip dysplasia HP:0001385
- Hyperlordosis HP:0003307
- Metaphyseal chondrodysplasia HP:0005871
- Metaphyseal dysplasia HP:0100255
- Progressive leg bowing HP:0006409
- Reduced bone mineral density HP:0004349
- Short lower limbs HP:0006385
Very frequent
- Abnormality of epiphysis morphology HP:0005930
- Abnormality of the dentition HP:0000164
- Carious teeth HP:0000670
- Scoliosis HP:0002650
Frequent
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.