Living with Van den Ende-Gupta syndrome
A genetic condition present at birth that affects facial features and bones, such as small eyelid openings, a cleft palate, and long fingers.
Understanding Van den Ende-Gupta syndrome
Features include underdeveloped eyelids and jaw bones, long and bent fingers, cleft palate, and other bone differences. GARD says intelligence is average. Very little is known about how it changes over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrow eyelid openings (blepharophimosis)
- Long, slender fingers (arachnodactyly)
- Bent fingers or toes (camptodactyly)
- Stiff joints (contractures)
- High palate
- Bowed long bones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in SCARF2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by a SCARF2 gene that is not working correctly. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: blepharophimosis, arachnodactyly, and congenital contractures; marden walker like syndrome; marden-walker-like syndrome; vdegs
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Van den Ende-Gupta syndrome.
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