- Differential Diagnosis
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Possible Causes For Curry-Jones syndrome - Causes
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- 1 possible causes found
- Congenital, Developmental Disorders
- Curry-Jones Syndrome
Curry Jones syndrome is the association of cranio-facial anomalies, polysyndactyly, and defects of the skin and gastrointestinal tract. So far, it has been reported in 5 patients only (3 males and 2 females). Unilateral craniosynostosis and shortness of the base of the skull caused striking asymmetry of the face. Hypertelorism and narrow palpebral fissures are observed as well. Complete or partial absence of the corpus callosum was found in 3 patients. One of the male infants had iris coloboma, and two had microphthalmia. Two other main features were reported: preaxial polydactyly and syndactyly of the hands and/or feet, and abnormal skin with areas of atrophy, often with linear distribution. Two patients also had multiple gastrointestinal myofibromata, that resulted in intestinal obstruction requiring operative intervention. The 5 patients were unrelated, there were no consanguinity of affected relatives in the families, which gives no indication about any mode of inheritance
- External Links Related to Curry-Jones syndrome - Causes
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)