brachydactyly type A1

Brachydactyly type A1, also known as BDA1, is a rare congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, sometimes fused with the terminal phalanges [7][8]. This condition affects the hands and feet, causing the middle bones of the fingers to be rudimentary or fused with the terminal bones [2].

In individuals with BDA1, the proximal phalanges of the thumbs and big toes are also short [2]. Brachydactyly type A1 is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition [4][9].

The genetic mutations responsible for BDA1 can be hereditary, passed down from parents to offspring [1]. The condition is relatively rare, with most types of brachydactyly being rare except for type A3 and D, which affect around 2% of the population [6].

Brachydactyly type A1 is caused by heterozygous mutation in the Indian hedgehog gene (IHH; 600726) on chromosome 2q35 [4]. The condition can occur either as an isolated malformation or as a part of a complex malformation syndrome [13].

References: [1] Context result 1 [2] Context result 2 [4] Context result 4 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges [15]. This condition can cause significant shortening of the fingers, making it difficult to perform everyday activities that require fine motor skills.

The main signs and symptoms of brachydactyly type A1 include:

• Shortened or underdeveloped middle phalanges of all digits
• Fusion of the middle phalanges with the terminal phalanges in some cases
• Significant shortening of the fingers, making it difficult to perform everyday activities that require fine motor skills
• Hand abnormalities, including curved pinky fingers (fifth finger clinodactyly) and webbing of the skin [5]

It's worth noting that brachydactyly type A1 is a congenital condition, meaning it is present at birth. The symptoms may become more noticeable as the individual grows and develops.

According to medical literature, the age range for when symptoms of this disease may start to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges [10]. In some cases, symptoms may not be apparent until later in childhood or adolescence.

It's essential to consult with a healthcare provider for an accurate diagnosis and treatment plan. A complete medical history, physical exam, X-ray, and potentially genetic test can help diagnose brachydactyly type A1 [1].

References: [1] - Context result 1 [5] - Context result 5 [10] - Context result 10 [15] - Context result 15

Diagnostic Tests for Brachydactyly Type A1

Brachydactyly type A1 can be diagnosed through a combination of clinical evaluation, anthropometric measurements, and radiologic examination. The following diagnostic tests may be employed to confirm the diagnosis:

• Physical Examination: A thorough physical examination by a qualified healthcare professional is essential in identifying the characteristic shortening or absence of the middle phalanges.
• X-ray of Hands: Postero-anterior (PA) X-rays of both hands can help confirm the diagnosis by visualizing the shortened or absent middle phalanges [9].
• Genetic Testing: Genetic testing, specifically IHH gene sequencing and deletion analysis, can be performed to identify mutations associated with brachydactyly type A1 [8][15].

Diagnostic Teams

A multidisciplinary diagnostic team may include:

• Genetics Specialist: To evaluate the genetic aspects of the condition and perform genetic testing.
• Orthopedic Specialist: To assess the musculoskeletal implications of brachydactyly type A1.

These diagnostic tests can help confirm the diagnosis of brachydactyly type A1, allowing for proper management and treatment planning.

Brachydactyly type A1 is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits [10]. When diagnosing this condition, it's essential to consider differential diagnoses that may present similar symptoms. Here are some conditions that can be confused with brachydactyly type A1:

• Clinodactyly: This is a congenital deformity where one or more fingers are curved or bent [12].
• Pseudohypoparathyroidism: This is a rare genetic disorder characterized by short stature, round face, and short fourth metacarpals [12].
• Acrodysostosis: This is a rare genetic disorder that affects the development of bones in the hands and feet, leading to shortening or absence of phalanges [11].
• Kirner’s deformity: This is a congenital deformity where one or more fingers are curved or bent, similar to clinodactyly [12].
• Camptodactyly: This is a congenital deformity where one or more fingers are flexed or curled [12].

These conditions can be differentiated from brachydactyly type A1 through clinical evaluation, radiologic studies, and molecular analysis. For instance, acrodysostosis typically involves shortening of the proximal phalanges in addition to the middle phalanges [11]. Similarly, pseudohypoparathyroidism is characterized by short stature and round face, which are not typical features of brachydactyly type A1.

A thorough diagnostic evaluation by a multidisciplinary team, including genetics, orthopedics, and rare disease specialists, can help establish an accurate diagnosis and guide management [13].