Aniridia-ptosis-intellectual disability-familial obesity syndrome

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An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia ptosis pendular nystagmus corneal pannus persistent pupillary membrane lenticular opacities foveal hypoplasia and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children and alopecia cardiac abnormalities and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.

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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Aniridia-ptosis-intellectual disability-familial obesity syndrome?

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