Say-Field-Coldwell syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Say-Field-Coldwell syndrome | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[short stature]], [[microcephaly]], [[dysmorphic features]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]] | |||
| medication = | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
== '''Alternate names''' == | == '''Alternate names''' == | ||
Triphalangeal thumbs and dislocation of patella; Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence | Triphalangeal thumbs and dislocation of patella; Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence | ||
== '''Definition''' == | == '''Definition''' == | ||
Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, [[brachydactyly]], [[camptodactyly]], recurrent dislocation of the [[patella]]s and relatively short stature. It has been described in a mother and her three daughters. | Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, [[brachydactyly]], [[camptodactyly]], recurrent dislocation of the [[patella]]s and relatively short stature. It has been described in a mother and her three daughters. | ||
{{rarediseases}} | {{rarediseases}} | ||
{{stb}} | {{stb}} | ||
Latest revision as of 00:54, 4 April 2025
| Say-Field-Coldwell syndrome | |
|---|---|
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, short stature, microcephaly, dysmorphic features |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Alternate names[edit]
Triphalangeal thumbs and dislocation of patella; Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence
Definition[edit]
Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.
NIH genetic and rare disease info[edit]
Say-Field-Coldwell syndrome is a rare disease.
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Rare diseases - Say-Field-Coldwell syndrome
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