Orphanet: Van den Ende Gupta syndrome
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Van den Ende-Gupta syndrome

Disease definition

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

ORPHA:2460

Classification level: Disorder
  • Synonym(s):
    • Marden-Walker-like syndrome
    • VDEGS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 600920
  • UMLS: C1833136
  • MeSH: -
  • GARD: 3382
  • MedDRA: -

Summary

Epidemiology

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.

- Last update: October 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.