Van den Ende Gupta syndrome

Other Names: Marden Walker like syndrome without psychomotor retardation; VDEGS; Blepharophimosis, arachnodactyly, and congenital contractures; Marden-Walker-like syndrome

Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system.

Epidemiology

The exact number of people with Van den Ende Gupta syndrome is unknown. There have been about 40 cases of this condition reported in the medical literature.

Cause

Van den Ende Gupta syndrome is caused by the SCARF2 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Inheritance

Autosomal recessive inheritance, a 25% chance

Van den Ende Gupta syndrome is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition. People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Signs and symptoms

The following list includes the most common signs and symptoms in people with Van den Ende Gupta syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. Symptoms may include:

• Underdeveloped eyelids
• Underdeveloped jaw bones
• Unusual nose
• Long fingers
• Bent joints
• Underdeveloped bones in the feet, shoulders and ribs

Van den Ende Gupta syndrome is present at birth. Intelligence is average. About 40 cases have been reported in the medical literature and little is known about how this condition changes over time.

Diagnosis

Diagnosis is based on the symptoms, clinical examination, imaging studies and confirmed by genetic testing.

Treatment

Treatment for Van den Ende Gupta syndrome is focused on managing the symptoms. Some people with this condition may benefit from surgery for the face and jaw. Specialists involved in the care of someone of Van den Ende Gupta syndrome may include:

• Radiologist
• Orthopedist
• Maxillofacial surgeon

NIH genetic and rare disease info

• NIH info on Van den Ende Gupta syndrome

Van den Ende Gupta syndrome is a rare disease.

Van den Ende Gupta syndrome Resources
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