Brachydactyly

Brachydactyly is a medical condition characterized by disproportionately short fingers and toes. It is a congenital condition, meaning it is present at birth, and is typically caused by genetic mutations. Brachydactyly can occur as an isolated trait or as part of a syndrome.

Classification

Brachydactyly is classified into several types based on the specific bones of the fingers or toes that are shortened. The classification system most commonly used is the Bell classification, which includes:

• Type A: Shortening of the middle phalanges.
• Type B: Shortening of the distal phalanges, often with nail dysplasia.
• Type C: Shortening of the middle phalanges of the index, middle, and little fingers.
• Type D: Shortening of the distal phalanges of the thumbs.
• Type E: Shortening of the metacarpals and metatarsals.

Genetics

Brachydactyly is often inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. However, some forms can be inherited in an autosomal recessive manner. The condition can be caused by mutations in several different genes, including:

• GDF5: Mutations in this gene are associated with brachydactyly type C.
• HOXD13: Mutations can cause brachydactyly type D.
• BMP2: Associated with brachydactyly type A2.

Clinical Features

The primary feature of brachydactyly is the shortening of the digits. This can lead to:

• Aesthetic concerns due to the appearance of the hands or feet.
• Functional limitations, particularly in fine motor skills.
• Difficulty in wearing certain types of footwear if the toes are affected.

Diagnosis

Diagnosis of brachydactyly is primarily clinical, based on the physical examination of the hands and feet. X-ray imaging is used to assess the bone structure and confirm the diagnosis. Genetic testing can identify specific mutations responsible for the condition.

Management

There is no cure for brachydactyly, but management focuses on addressing any functional limitations. This may include:

• Occupational therapy to improve hand function.
• Custom footwear for comfort and function.
• Surgical intervention in severe cases to improve function or appearance.

Prognosis

The prognosis for individuals with brachydactyly is generally good, as the condition does not typically affect overall health. However, the impact on hand or foot function can vary depending on the severity of the condition.

Epidemiology

Brachydactyly is a rare condition, with varying prevalence depending on the population studied. It is more commonly reported in certain isolated populations due to genetic factors.

See Also

• Polydactyly
• Syndactyly
• Ectrodactyly

References

• Jones, K. L. (1997). Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders Company.
• Online Mendelian Inheritance in Man (OMIM). "Brachydactyly". Retrieved from [1]

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Brachydactyly
Brachydactyly.jpg
Synonyms	Short fingers
Pronounce	N/A
Specialty	N/A
Symptoms	Shortened fingers or toes
Complications	Functional limitations
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Brachydactyly is a medical condition characterized by disproportionately short fingers and toes. It is a congenital condition, meaning it is present at birth, and is typically caused by genetic mutations. Brachydactyly can occur as an isolated trait or as part of a syndrome.

Classification

Brachydactyly is classified into several types based on the specific bones of the fingers or toes that are shortened. The classification system most commonly used is the Bell classification, which includes:

• Type A: Shortening of the middle phalanges.
• Type B: Shortening of the distal phalanges, often with nail dysplasia.
• Type C: Shortening of the middle phalanges of the index, middle, and little fingers.
• Type D: Shortening of the distal phalanges of the thumbs.
• Type E: Shortening of the metacarpals and metatarsals.

Genetics

Brachydactyly is often inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. However, some forms can be inherited in an autosomal recessive manner. The condition can be caused by mutations in several different genes, including:

• GDF5: Mutations in this gene are associated with brachydactyly type C.
• HOXD13: Mutations can cause brachydactyly type D.
• BMP2: Associated with brachydactyly type A2.

Clinical Features

The primary feature of brachydactyly is the shortening of the digits. This can lead to:

• Aesthetic concerns due to the appearance of the hands or feet.
• Functional limitations, particularly in fine motor skills.
• Difficulty in wearing certain types of footwear if the toes are affected.

Diagnosis

Diagnosis of brachydactyly is primarily clinical, based on the physical examination of the hands and feet. X-ray imaging is used to assess the bone structure and confirm the diagnosis. Genetic testing can identify specific mutations responsible for the condition.

Management

There is no cure for brachydactyly, but management focuses on addressing any functional limitations. This may include:

• Occupational therapy to improve hand function.
• Custom footwear for comfort and function.
• Surgical intervention in severe cases to improve function or appearance.

Prognosis

The prognosis for individuals with brachydactyly is generally good, as the condition does not typically affect overall health. However, the impact on hand or foot function can vary depending on the severity of the condition.

Epidemiology

Brachydactyly is a rare condition, with varying prevalence depending on the population studied. It is more commonly reported in certain isolated populations due to genetic factors.

See Also

• Polydactyly
• Syndactyly
• Ectrodactyly

References

• Jones, K. L. (1997). Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders Company.
• Online Mendelian Inheritance in Man (OMIM). "Brachydactyly". Retrieved from [2]