Splenogonadal fusion-limb defects-micrognathia syndrome

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Synonyms: SGFLD syndrome

A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros) limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate bifid uvula microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism anal stenosis/atresia hypoplastic lungs and cardiac malformations.

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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Splenogonadal fusion-limb defects-micrognathia syndrome?

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