Weyer's ulnar ray/oligodactyly syndrome

Weyer's ulnar ray/oligodactyly syndrome is a rare genetic disorder characterized by abnormalities in the development of the ulna and other structures in the upper limb. The syndrome is named after the Dutch pediatrician Cornelis Weyer, who first described it in 1952.

Symptoms and Signs

The primary symptom of Weyer's ulnar ray/oligodactyly syndrome is the underdevelopment or absence of the ulna, one of the two long bones in the forearm. This can result in a variety of physical abnormalities, including oligodactyly (fewer than five fingers on a hand), syndactyly (fused fingers), and ectrodactyly (missing fingers). Other symptoms can include short stature, facial dysmorphism, and intellectual disability.

Causes

Weyer's ulnar ray/oligodactyly syndrome is caused by mutations in the EPHA4 gene. This gene provides instructions for making a protein that is involved in the formation and development of various tissues and organs during embryonic development. Mutations in the EPHA4 gene disrupt this process, leading to the physical abnormalities seen in the syndrome.

Diagnosis

Diagnosis of Weyer's ulnar ray/oligodactyly syndrome is based on physical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the EPHA4 gene.

Treatment

There is currently no cure for Weyer's ulnar ray/oligodactyly syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and surgery to correct physical abnormalities.

Prognosis

The prognosis for individuals with Weyer's ulnar ray/oligodactyly syndrome varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals with the syndrome can lead productive lives.

See Also

• Genetic disorder
• Ulna
• Oligodactyly
• Syndactyly
• Ectrodactyly
• EPHA4

NIH genetic and rare disease info

• NIH info on Weyer's ulnar ray/oligodactyly syndrome

Weyer's ulnar ray/oligodactyly syndrome is a rare disease.

Weyer's ulnar ray/oligodactyly syndrome Resources
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