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A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
ORPHA:560Classification level: Disorder
A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2006)
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