Brachydactyly with major proximal phalangeal shortening

= = Brachydactyly with Major Proximal Phalangeal Shortening == Brachydactyly with major proximal phalangeal shortening is a rare congenital condition characterized by the abnormal shortening of the fingers and toes due to the underdevelopment of the proximal phalanges. This condition is a type of brachydactyly, which refers to the shortening of the digits.

Classification

Brachydactyly is classified into several types based on the specific bones affected and the pattern of inheritance. The major types include:

• Type A: Shortening of the middle phalanges.
• Type B: Shortening or absence of the distal phalanges.
• Type C: Shortening of the middle phalanges with a specific pattern.
• Type D: Shortening of the distal phalanges of the thumbs.
• Type E: Shortening of the metacarpals and metatarsals.

Brachydactyly with major proximal phalangeal shortening does not fit neatly into these categories and may be considered a variant or a separate classification.

Etiology

The condition is often inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the specific genetic mutations responsible for this type of brachydactyly are not well understood.

Clinical Features

Individuals with this condition typically present with:

• Shortened fingers and/or toes, primarily due to the underdevelopment of the proximal phalanges.
• Possible functional limitations in hand or foot movement, depending on the severity of the shortening.
• In some cases, associated anomalies in other parts of the skeleton or body.

Diagnosis

Diagnosis is primarily clinical, based on the physical examination of the hands and feet. Radiographic imaging can confirm the shortening of the proximal phalanges and help differentiate this condition from other types of brachydactyly.

Management

Management of brachydactyly with major proximal phalangeal shortening is usually supportive and may include:

• Occupational or physical therapy to improve function and dexterity.
• Surgical intervention in severe cases to improve hand or foot function.

Prognosis

The prognosis for individuals with this condition is generally good, as it primarily affects the appearance and function of the digits. Most individuals lead normal lives with minimal functional impairment.

Research and Future Directions

Ongoing research aims to better understand the genetic basis of brachydactyly with major proximal phalangeal shortening and to develop targeted therapies that can address the underlying causes of the condition.

NIH genetic and rare disease info

• NIH info on Brachydactyly with major proximal phalangeal shortening

Brachydactyly with major proximal phalangeal shortening is a rare disease.