Say-Field-Coldwell syndrome
| Say-Field-Coldwell syndrome | |
|---|---|
| Other names | Triphalangeal thumb-patella subluxation |
| Specialty | Medical genetics |
| Symptoms | Minor physical anomalies, regular dislocation of the patella and short stature |
| Complications | usually, none |
| Usual onset | infancy |
| Duration | life-long |
| Causes | Genetic mutation |
| Diagnostic method | Physical evaluation |
| Prevention | none |
| Prognosis | good |
| Frequency | very rare, only 4 cases have been recorded in medical literature. |
Say-Field-Coldwell syndrome is a very rare genetic disorder which consists of triphalangeal thumbs, brachydactyly, camptodactyly, regular dislocation of the patella and short stature.[1] Only one affected woman and her (also affected) three daughters have been described in medical literature.[2][3]
References
[edit]- ^ "Say-Field-Coldwell syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-11.
- ^ "Say-field-Coldwell syndrome (Concept Id: C1860805) – MedGen – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-11.
- ^ "Say-field-Coldwell syndrome - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-11.
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