Acknowledgement of Brachydactyly has not been added yet.

Brachydactyly is rare in the general population, though the exact prevalence depends on the specific subtype. Some forms occur more frequently in certain populations due to inherited genetic traits. For example, types A3 and D are more common and affect about 2% of the population. Brachydactyly can be present at birth and is equally observed in males and females.

 

Name	Abbreviation
Short finger syndrome
Short digits disorder

Brachydactyly is primarily caused by genetic mutations that affect bone growth and development. It is most commonly inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition to their children (see Rareshare Guide on Genetic Inheritance). Mutations in genes such as IHH, GDF5, and BMP2 have been linked to various types of brachydactyly. The following genetic mutations and the proteins and functions they affect are linked to different types of brachydactyly:

Type of Brachydactyly	Mutated Gene	Affected Protein Function
A1	IHH	Indian Hedgehog protein; secretes signaling molecules for bone growth
A2	BMPR1B or GDF5	Bone morphogenetic protein receptor; bone formation in embryos   Growth differentiation factor; releases molecule that binds to BMP receptor
A3	HOXD13	Homeobox transcription factor located on chromosome 2; associated with limb and genital abnormalities
B	ROR2	Receptor protein tyrosine kinase; cartilage and growth plate development
C	GDF5	Growth differentiation factor; releases molecule that binds to BMP receptor
D	HOXD13	Homeobox transcription factor located on chromosome 2; associated with limb and genital abnormalities
E	HOXD13 or PTHLH	Homeobox transcription factor located on chromosome 2; associated with limb and genital abnormalities    Parathyroid hormone that signals bone development

In some cases, environmental factors such as prenatal exposure to certain medications (such as those that treat epilepsy) or nutrient deficiencies can contribute to abnormal bone development. Other developmental disorders in children increase instances of brachydactyly, including Apert syndrome, Down syndrome (trisomy 21), Robinos syndrome, Turner syndrome, and Rubinstein-Tabi syndrome.

 

The primary symptom of brachydactyly is the noticeable shortening of fingers and/or toes. As mentioned before, different types may lead to different patterns of specific fingers and toes affected. Additional symptoms may include:

• Mild to severe shortening of digits, depending on the subtype.

• Abnormal nail growth or shape, particularly in more severe cases.

• Hand and foot deformities, including fusion of digits in some cases.

• Reduced grip strength or manual dexterity, though function is often preserved in mild cases.

• Skeletal abnormalities in some forms, particularly when associated with syndromes like Turner syndrome or Rubinstein-Taybi syndrome.

Brachydactyly is typically diagnosed through a clinical examination at birth or in early childhood. A detailed family history is often taken to determine if the condition is inherited.

 

• X-rays: Used to assess the structure and development of finger and toe bones.

• Genetic Testing: Identifies mutations in genes associated with brachydactyly and distinguishes between different subtypes.

• Hand Function Tests: Evaluates any impact on dexterity and grip strength.

• Additional Imaging (MRI/CT scans): May be used in complex cases where other skeletal abnormalities are suspected.

There is no specific treatment required for mild cases of brachydactyly, as the condition typically does not cause pain or functional impairment. In cases where hand or foot function is significantly affected, the following treatment options may be considered:

• Physical Therapy: Improves hand strength and dexterity.

• Occupational Therapy: Helps individuals adapt to functional limitations.

• Surgical Correction: In severe cases, procedures such as bone lengthening, joint reconstruction, or finger separation (if digits are fused) may be performed.

• Orthotic Devices: Custom-made shoe inserts or finger splints may help with function and comfort.

The prognosis for individuals with brachydactyly is generally excellent. Most people with the condition experience little to no functional impairment and lead normal, healthy lives. In cases where brachydactyly is associated with a genetic syndrome, the overall prognosis depends on the severity of the accompanying symptoms. For those with severe hand or foot deformities, surgical or therapeutic interventions can improve mobility and function.

 

Tips or Suggestions of Brachydactyly has not been added yet.

1. Cleveland Clinic - Brachydactyly

2. Johns Hopkins Medicine

3. Healthline - Brachydactyly