Say-Field-Coldwell syndrome

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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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