White forelock with malformations

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White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis distinct facial features (epicanthal folds hypertelorism posterior rotation of ears prominent philtrum high-arched palate) and congenital anomalies/malformations of the eye (blue sclera) cardiopulmonary (atrial septal defect prominent thoracic and abdominal veins) and skeletal (clinodactyly syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.

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 July 2024

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White forelock with malformations?

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