Brachydactyly of the hands and feet with duplication of the first toes

= = Brachydactyly of the Hands and Feet with Duplication of the First Toes == Brachydactyly of the hands and feet with duplication of the first toes is a rare congenital condition characterized by shortened digits (brachydactyly) and the presence of an extra toe adjacent to the first toe (polydactyly). This condition affects both the hands and feet, leading to unique anatomical presentations.

Clinical Features

Individuals with this condition typically present with:

• Brachydactyly: Shortening of the fingers and toes due to underdeveloped phalanges or metacarpals/metatarsals.
• Polydactyly: Duplication of the first toe, resulting in an extra toe that may vary in size and functionality.
• Symmetry: The condition often affects both hands and feet symmetrically, although asymmetrical cases have been reported.

Genetic Basis

The genetic etiology of brachydactyly with duplication of the first toes is not fully understood, but it is believed to involve mutations in genes responsible for limb development. Homeobox genes and Hox gene clusters are often implicated in limb patterning and digit formation.

Diagnosis

Diagnosis is primarily clinical, based on physical examination and radiographic imaging. X-rays can reveal the extent of bone shortening and the presence of extra digits. Genetic testing may be conducted to identify specific mutations.

Treatment

Management of this condition is tailored to the individual's needs and may include:

• Surgical Intervention: To correct functional impairments or cosmetic concerns, especially if the extra toe causes discomfort or difficulty with footwear.
• Physical Therapy: To improve dexterity and function of the hands and feet.

Prognosis

The prognosis for individuals with brachydactyly and duplication of the first toes is generally good, with most individuals leading normal lives. Functional limitations depend on the severity of the condition and the success of any surgical interventions.

Epidemiology

This condition is extremely rare, with few cases reported in the medical literature. It does not appear to have a strong gender or ethnic predilection.

Related Conditions

• Brachydactyly
• Polydactyly
• Syndactyly

Research Directions

Ongoing research aims to better understand the genetic mechanisms underlying this condition and to develop improved surgical techniques for correction.

NIH genetic and rare disease info

• NIH info on Brachydactyly of the hands and feet with duplication of the first toes

Brachydactyly of the hands and feet with duplication of the first toes is a rare disease.