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Van den Ende-Gupta syndrome

Synonym(s) Marden-Walker-like syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.0
MeSH -
MedDRA -


Disease definition

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.


Ten cases from seven families have been reported in the literature.

Clinical description

The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities.

Genetic counseling

The condition is transmitted as an autosomal recessive trait.

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