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Van den Ende-Gupta syndrome

Orpha number ORPHA2460
Synonym(s) Marden-Walker-like syndrome
VDEGS
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

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.

The condition is transmitted as an autosomal recessive trait.


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Detailed information

Anesthesia guidelines
  • EN (2011,pdf)
  • DE (2011,pdf)
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