Medicine:Say-Field-Coldwell syndrome
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| 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
- ↑ "Say-Field-Coldwell syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome.
- ↑ "Say-field-Coldwell syndrome (Concept Id: C1860805) – MedGen – NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/348711.
- ↑ "Say-field-Coldwell syndrome - NIH Genetic Testing Registry (GTR) - NCBI". https://www.ncbi.nlm.nih.gov/gtr/conditions/C1860805/.
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