Lichtenstein syndrome

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A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency in combination with osteoporosis and skeletal anomalies such as posterior spinal arch fusion defect metacarpal subluxation syndactyly and camptodactyly. Reported dysmorphic features include synophrys anteverted nostrils and single palmar crease. There have been no further descriptions in the literature since 1972.

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 May 2024

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Lichtenstein syndrome?

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Clinical Trials

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