Syndromes associated with syndactyly

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Abstract

Syndactyly is one of the most common upper limb congenital anomalies, occurring either as alone or in association with other abnormalities. Several multiple malformation syndromes where hand and/or foot syndactyly are present have been described in the scientific literature. Sporadic and inherited forms have been identified, and among those that are inherited, new mutations continue to be discovered. The advances in the knowledge of these anomalies, fetal ultrasound screening, and new molecular genetic techniques potentially allow for early diagnosis, although antenatal diagnosis remains infrequent. New genetic mutations and malformations associations continue to present to the clinicians, making the diagnostic process complex and challenging. Syndactyly phenotypes may vary considerably, especially in the syndromic forms, ranging from simple incomplete to complex and complicated types. Treatment of syndromic syndactyly needs to be accurately integrated within a plan tailored on each single patient, due to the coexistence of other associated anomalies whose treatment may take priority over syndactyly.

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Garagnani, L., & Smith, G. D. (2015). Syndromes associated with syndactyly. In The Pediatric Upper Extremity (pp. 297–324). Springer New York. https://doi.org/10.1007/978-1-4614-8515-5_14

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