Night blindness-skeletal anomalies-dysmorphism syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1390
Definition
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
Epidemiology
It has been described in two brothers.
Clinical description
They also presented myopia and extinguished electroretinograms.
Genetic counseling
Several different modes of inheritance have been reported.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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