Clinical Signs and Symptoms
ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian 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 ribs HP:0000772
- Abnormality of the scapula HP:0000782
- Arrhythmia HP:0011675
- Atrioventricular block HP:0001678
- Cardiorespiratory arrest HP:0006543
- Delayed skeletal maturation HP:0002750
- Disproportionate short stature HP:0003498
- Iliac crest serration HP:0008786
- Long fibula HP:0003085
- Metaphyseal chondrodysplasia HP:0005871
- Platyspondyly HP:0000926
- Rhizomelic arm shortening HP:0004991
- Short metacarpal HP:0010049
- Short palm HP:0004279
- Spondylometaphyseal dysplasia HP:0002657
Very frequent
- Cerebellar hypoplasia HP:0001321
- Generalized hypotonia HP:0001290
- Narrow chest HP:0000774
- Respiratory insufficiency HP:0002093
- Turricephaly HP:0000262
Frequent
- Accelerated skeletal maturation HP:0005616
- Agenesis of corpus callosum HP:0001274
- Cone-shaped epiphysis HP:0010579
- Myocarditis HP:0012819
- Pachygyria HP:0001302
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.