Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome

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A rare genetic congenital limb malformation syndrome characterized by bilateral short broad thumbs short deviated index fingers clinodactyly of the fifth fingers broad valgus-deviated halluces and laterally-deviated overlapping second toe associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly low anterior hairline flat supraorbital ridges telecanthus upslanting palpebral fissures maxillary hypoplasia posteriorly rotated ears microsomia and micrognathia). Radiological findings include thumb index and middle finger hyperphalangy with severe delta phalanxes in affected fingers and halluces.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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