Choi Young-youn

Final Pr. ID: Poster #: CR-010

Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal recessive disorder with mutation of SCARF2. It is characterized by distinctive craniofacial and skeletal manifestations include blepharophimosis, a narrow nose, malar hypoplasia, deformed ears, an everted lower lip, flexion contractures, camptodactyly, arachnodactyly and dolichostenomelia, while development and intelligence are normal. It needs a regular follow-up with orthopedics because of joint contracture deformity and scoliosis.
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Authors:  Choi Young-youn

Keywords:  multiple joint contracture, craniofacial abnormalities, autosomal recessive disorder