Say-Field-Coldwell syndrome

Say-Field-Coldwell syndrome
Other namesTriphalangeal thumb-patella subluxation
SpecialtyMedical genetics
SymptomsMinor physical anomalies, regular dislocation of the patella and short stature
Complicationsusually, none
Usual onsetinfancy
Durationlife-long
CausesGenetic mutation
Diagnostic methodPhysical evaluation
Preventionnone
Prognosisgood
Frequencyvery 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

  1. ↑ "Say-Field-Coldwell syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-11.
  2. ↑ "Say-field-Coldwell syndrome (Concept Id: C1860805) – MedGen – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-11.
  3. ↑ "Say-field-Coldwell syndrome - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-11.
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