Juberg-Hellman syndrome

=Juberg-Hellman Syndrome = Juberg-Hellman Syndrome, also known as Oculodigitoesophagoduodenal Syndrome, is a rare genetic disorder characterized by a combination of physical anomalies affecting the eyes, fingers, esophagus, and duodenum. This condition is named after Richard C. Juberg and Louis Hellman, who first described the syndrome in 1973.

Clinical Features

Individuals with Juberg-Hellman Syndrome typically present with a variety of symptoms, which may include:

• Ocular Anomalies: These can include ptosis (drooping of the upper eyelid), strabismus (misalignment of the eyes), and other visual impairments.
• Digital Anomalies: Patients often have syndactyly (fusion of fingers or toes) or polydactyly (extra fingers or toes).
• Esophageal and Duodenal Anomalies: These may include esophageal atresia (a congenital absence of part of the esophagus) and duodenal atresia (blockage of the duodenum).

Genetic Basis

The exact genetic cause of Juberg-Hellman Syndrome is not well understood. However, it is believed to be inherited in an X-linked recessive pattern, which means the gene associated with the syndrome is located on the X chromosome. Males are more frequently affected due to having only one X chromosome.

Diagnosis

Diagnosis of Juberg-Hellman Syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other syndromes with overlapping symptoms.

Management

There is no cure for Juberg-Hellman Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Surgical Interventions: To correct anatomical anomalies such as syndactyly or esophageal atresia.
• Vision Therapy: To address ocular issues and improve visual function.
• Nutritional Support: For individuals with feeding difficulties due to esophageal or duodenal anomalies.

Prognosis

The prognosis for individuals with Juberg-Hellman Syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve quality of life.

See Also

• X-linked recessive inheritance
• Syndactyly
• Esophageal atresia
• Juberg, R. C., & Hellman, L. P. (1973). A new familial syndrome of ocular, digital, and esophageal anomalies. *Journal of Pediatrics*, 82(1), 84-88.
• Online Mendelian Inheritance in Man (OMIM): Juberg-Hellman Syndrome.

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Juberg-Hellman syndrome

Juberg-Hellman syndrome is a rare disease.