Diaphragmatic defect-limb deficiency-skull defect syndrome

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Synonyms: Froster-Huch syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia lung hypoplasia ossification defect of the skull and severe limb hypoplasia. Other clinicial features may include syndactyly clinodactyly extra spleen absence of the femur or pelvic bone partial intestinal malrotation omphalocele and testicular atrophy.

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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Diaphragmatic defect-limb deficiency-skull defect syndrome?

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