Say-Field-Coldwell syndrome
| 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.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
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Rare diseases - Say-Field-Coldwell syndrome
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