What are the other Names for this Condition? (Also known as/Synonyms)

• Triphalangeal thumbs and dislocation of patella syndrome
• Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence

What is Say-Field-Coldwell Syndrome? (Definition/Background Information)

• 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

(Source: Say-Field-Coldwell syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Say-Field-Coldwell Syndrome? (Age and Sex Distribution)

• Say-Field-Coldwell Syndrome is a rare, congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Say-Field-Coldwell Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Say-Field-Coldwell Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for Say-Field-Coldwell Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Say-Field-Coldwell Syndrome? (Etiology)

The exact cause of Say-Field-Coldwell Syndrome is not currently known

What are the Signs and Symptoms of Say-Field-Coldwell Syndrome?

The signs and symptoms of Say-Field-Coldwell Syndrome may include:

• Recurrent patellar (knee caps) dislocation
• Triphalangeal thumb

(Source: Say-Field-Coldwell syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Extra fingers and toes
• Short fingers and toes
• Permanent bending of fingers
• Short stature
• Intellectual deficiency

How is Say-Field-Coldwell Syndrome Diagnosed?

Say-Field-Coldwell Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Say-Field-Coldwell Syndrome?

The complications of Say-Field-Coldwell Syndrome may include:

• Difficulty in movement due to dislocation of kneecaps
• Reduced or lost “gripping” ability due to triphalangeal thumb

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Say-Field-Coldwell Syndrome Treated?

There is no cure for Say-Field-Coldwell Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Say-Field-Coldwell Syndrome be Prevented?

• Say-Field-Coldwell Syndrome may not be preventable, since it is a genetic disorder
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Say-Field-Coldwell Syndrome? (Outcomes/Resolutions)

• The prognosis of Say-Field-Coldwell Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Say-Field-Coldwell Syndrome:

Say-Field-Coldwell Syndrome was described in a mother and her three daughters in 1976, by scientists B. Say, E. Filed, J. G. Coldwell, L. Warnberg and M. Atasu

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/