Night blindness-skeletal anomalies-dysmorphism syndrome

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Night blindness-skeletal anomalies-dysmorphism syndrome

Synonyms: Hunter-Thompson-Reed syndrome

A rare genetic multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness skeletal abnormalities (sloping shoulders joint hyperextensibility minor radiological anomalies) and characteristic facial features (periorbital anomalies malar flatness retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.

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 February 2024

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