Clinical Signs and Symptoms
ORPHA:99642 Spondyloepimetaphyseal dysplasia, Handigodu 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.
- Arthralgia of the hip HP:0003365
- Hip osteoarthritis HP:0008843
- Limited hip movement HP:0008800
Very frequent
- Abnormality of the skeletal system HP:0000924
- Abnormality of the vertebral column HP:0000925
- Difficulty running HP:0009046
- Difficulty walking HP:0002355
- Disproportionate short-trunk short stature HP:0003521
- Dysplasia of the femoral head HP:0010575
- Hip contracture HP:0003273
- Hip subluxation HP:0030043
- Hump-shaped mound of bone in central and posterior portions of vertebral endplate HP:0004594
- Lumbar hyperlordosis HP:0002938
- Platyspondyly HP:0000926
- Protrusio acetabuli HP:0003179
- Short stature HP:0004322
Frequent
- Abnormality of the hand HP:0001155
- Abnormality of the intervertebral disk HP:0005108
- Abnormality of the knee HP:0002815
- Broad femoral neck HP:0006429
- Broad radial metaphysis HP:0004026
- Coxa vara HP:0002812
- Flattened femoral head HP:0008812
- Hip dysplasia HP:0001385
- Knee pain HP:0030839
- Severe short stature HP:0003510
- Short femoral neck HP:0100864
- Waddling gait HP:0002515
- Wide distal femoral metaphysis HP:0006387
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.