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Cranioectodermal dysplasia
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Rhizomelia
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
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