brachydactyly type C

Brachydactyly type C, also known as BDC, is a rare congenital condition that affects the bones in the fingers and hands.

Characteristics:

• Shortening of the middle phalanges (the bones in the middle part of the fingers) of the index, middle, and little fingers [7][8]
• The ring finger is usually unaffected [10][14]
• Hyperphalangy (extra bones) or brachymesophalangy (shortened middle phalanges) may occur in the index and middle fingers [11][14]
• Ulnar deviation (angled towards the fifth finger) of the index finger may also be present [11]

Prevalence:

• Brachydactyly type C is a very rare condition, with only a few reported cases [1][2]

Inheritance:

• BDC is an autosomal dominant condition, meaning that a single copy of the mutated gene is enough to cause the condition [9][15]

Brachydactyly type C is a rare congenital condition characterized by shortening of certain bones in the index, middle, and little fingers. The signs and symptoms of this condition include:

• Shortened fingers: The index, middle

Diagnostic Tests for Brachydactyly Type C

Brachydactyly type C can be diagnosed through various diagnostic tests, which are essential in confirming the condition and ruling out other potential causes. Here are some of the diagnostic tests used to diagnose brachydactyly type C:

• X-rays: X-rays can be used to see which bones are shortened and to diagnose the type of brachydactyly [3]. In mild cases, an X-ray may not show any abnormalities, but in more severe cases, it can help identify the affected bones.
• Genetic testing: Genetic testing can confirm a diagnosis of BDC by identifying mutations in the IHH gene, which is known to be associated with the condition [8].
• Clinical evaluation: A complete medical history and physical examination are essential in diagnosing brachydactyly type C. Your healthcare provider will examine your hands and fingers to look for signs of shortening or other abnormalities.
• Anthropometric evaluation: Anthropometric measurements, such as hand length and finger circumference, can also be used to diagnose brachydactyly type C [7].
• Sequence analysis: Sequence analysis of the entire coding region can be used to confirm a diagnosis of BDC by identifying mutations in the IHH gene [11].

It's essential to note that a diagnosis of brachydactyly type C should only be made by a qualified healthcare professional, such as a geneticist or an orthopedic specialist. They will use a combination of these diagnostic tests and other clinical evaluations to confirm the diagnosis.

References:

[3] Type C is rare and affects the index, middle, and little fingers. [7] by SA Temtamy · 2008 · Cited by 192 — Diagnosis and diagnostic methods​​ Type A1 brachydactyly can be diagnosed by clinical, anthropometric and radiologic evaluation of both hands. X- ... [8] Genetic testing can confirm a diagnosis of BDC by identifying mutations in the IHH gene, which is known to be associated with the condition. [11] Clinical Molecular Genetics test for Brachydactyly type C and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Laboratorio de Genetica Clinica SL.

Brachydactyly type C is a rare congenital condition characterized by shortening of certain bones in the index, middle, and little fingers [2]. While there is no specific management or treatment that is applicable to all forms of brachydactyly, including type C, various treatments may be considered depending on the severity of the condition.

According to Orphanet, a database of rare diseases and orphan drugs, treatment for brachydactyly type C varies based on the severity of the condition [12]. In some cases, physical therapy may be indicated to improve mobility and function in affected fingers. Additionally, plastic surgery may be considered if the shortened bones cause significant cosmetic or functional impairment.

A study published in a medical journal reported that closing wedge osteotomy was performed in 23 digits with satisfactory outcomes [9]. This surgical procedure involves cutting and repositioning the bone to improve alignment and function.

It's essential to note that treatment for brachydactyly type C should only be provided by a qualified specialist, as mentioned on Orphanet [7]. The information available online should not be used as a basis for diagnosis or treatment.

References:

[2] - Context result 2 [7] - Context result 7 [9] - Context result 9 [12] - Context result 12

Understanding Brachydactyly Type C

Brachydactyly type C, also known as brachymesophalangy, is a rare congenital condition characterized by shortening of certain bones in the index, middle, and little fingers. This condition typically affects individuals early in life, with symptoms becoming more noticeable during infancy or childhood.

Causes and Inheritance

Brachydactyly type C is usually caused by changes in the GDF5 gene, which is inherited in an autosomal dominant manner. This means that a single copy of the mutated gene is enough to cause the condition. The condition is typically inherited from one's parents, but it can also occur spontaneously.

Symptoms and Diagnosis

The symptoms of brachydactyly type C include shortening of the bones in the index, middle, and little fingers, with the ring finger being unaffected. This results in a characteristic appearance where the affected fingers appear shorter than usual. The condition is usually diagnosed through anthropometric, clinical, or radiological methods.

Differential Diagnosis

The differential diagnosis for brachydactyly type C includes other conditions that can cause shortening of the digits, such as pseudohypoparathyroidism (PHP), reactive arthropathy, diabetic arthropathy, and other forms of brachydactyly. A thorough medical history, physical examination, and imaging studies are necessary to rule out these conditions.

Prevalence and Rarity

Brachydactyly type C is a very rare condition, with only a few reported cases in the literature. It is essential for healthcare providers to be aware of this condition to provide accurate diagnoses and management plans.

References:

• [1] Brachydactyly type C is characterized by shortening of certain bones in the index, middle, and little fingers. (Source: #10)
• The GDF5 gene is responsible for brachydactyly type C, which is inherited in an autosomal dominant manner. (Source: #10)
• Brachydactyly type C can be diagnosed through anthropometric, clinical, or radiological methods. (Source: #11)
• Pseudohypoparathyroidism (PHP), reactive arthropathy, diabetic arthropathy, and other forms of brachydactyly are conditions that should be ruled out in the differential diagnosis for brachydactyly type C. (Source: #11)