Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome is a rare congenital disorder characterized by the absence or underdevelopment of the tibia, the presence of extra digits (polysyndactyly), and a thumb with three phalanges (triphalangeal thumb).

Overview

Tibial Hemimelia is a rare condition that affects the development of the tibia, one of the two bones in the lower leg. In individuals with this condition, the tibia may be completely absent or significantly underdeveloped. This can lead to a variety of physical abnormalities, including a shortened leg and foot deformities.

Polysyndactyly refers to the presence of extra digits on the hands or feet. This can occur in a variety of forms, ranging from a small, soft tissue appendage to a fully formed, functional digit. The extra digits can occur on any digit but are most commonly found on the thumb or little finger.

Triphalangeal thumb is a condition in which the thumb has three phalanges, or bone segments, instead of the usual two. This can result in a thumb that is longer than normal and may have limited mobility.

Causes

The exact cause of Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in certain genes involved in limb development.

Diagnosis

Diagnosis of Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome is typically made based on physical examination and imaging studies, such as X-rays, to visualize the bones of the limbs. Genetic testing may also be performed to identify any potential genetic mutations.

Treatment

Treatment for Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome is typically focused on improving function and appearance. This may involve surgery to correct deformities, physical therapy to improve mobility, and in some cases, the use of prosthetics.

See Also

• Congenital disorders
• Genetic disorders
• Limb development

NIH genetic and rare disease info

• NIH info on Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare disease.

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Resources
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