Marden Walker like syndrome
Don’t fight Marden Walker like syndrome alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Marden Walker like syndrome and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2460
Definition
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Connect with other users with Marden Walker like syndrome on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
