Global InformationSpondyloenchondrodysplasia information
| Spondyloenchondrodysplasia | |
|---|---|
| Other names | Spondyloenchondrodysplasia with immune dysregulation, Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, Roifman immunoskeletal syndrome, SPENCD (abbr.), SEM (abbr.), Spondylometaphyseal dysplasia with enchondromatous changes, Spondyloenchondromatosis[1][2] |
 | |
| Specialty | Medical genetics |
| Symptoms | Vary widely among patients |
| Usual onset | Birth–Childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Frequency | rare |
Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, although its phenotypical nature is highly variable among patients with the condition, including symptoms such as muscle spasticity or thrombocytopenia purpura.[3] It is a type of immunoosseous dysplasia.[4]
- ^ "UniProt". www.uniprot.org. Retrieved 2022-10-23.
- ^ "Spondyloenchondrodysplasia with immune dysregulation". NORD (National Organization for Rare Disorders). Retrieved 2022-10-23.
- ^ "Orphanet: Spondyloenchondrodysplasia". www.orpha.net. Retrieved 2022-10-23.
- ^ "Spondyloenchondrodysplasia with immune dysregulation (Concept Id: C1842763) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-23.