Amaurosis-hypertrichosis syndrome

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Amaurosis-hypertrichosis syndrome

A rare syndromic inherited retinal disorder characterized by cone-rod type congenital amaurosis severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness) and trichomegaly (bushy eyebrows with synophrys excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.

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 Data version April 2024

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Amaurosis-hypertrichosis syndrome?

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