Ontology highlight
ABSTRACT:
SUBMITTER: Bedeschi MF
PROVIDER: S-EPMC3214947 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Bedeschi M F MF Colombo L L Mari F F Hofmann K K Rauch A A Gentilin B B Renieri A A Clerici D D
Molecular syndromology 20100101 5
Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We rep ...[more]