Van den Ende Gupta syndrome

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Disease Overview

Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van den Ende Gupta syndrome is caused by a SCARF2 gene that is not working correctly. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical examination, imaging studies and confirmed by genetic testing. Treatment is focused on managing the symptoms. Surgery can help correct the underdevelopment of facial features.[15577][15767][15768]


Synonyms

  • Marden Walker like syndrome without psychomotor retardation
  • VDEGS
  • Blepharophimosis, arachnodactyly, and congenital contractures
  • Marden-Walker-like syndrome

For more information, visit GARD.

National Organization for Rare Disorders