brachydactyly type E2

Brachydactyly type E2 (BDE2) is a form of brachydactyly characterized by shortening of the fingers, mainly in the metacarpals and metatarsals [4]. This condition is caused by a mutation in the PTHLH gene on chromosome 12p [7].

The clinical features of BDE2 include brachydactyly, which means that the hands or feet are shorter than normal. The shortening of the fingers can vary in severity and may affect one or more digits [5]. In some cases, individuals with BDE2 may also experience short stature and tooth abnormalities [6].

BDE2 is an autosomal dominant condition, meaning that a single copy of the mutated gene is enough to cause the condition. It is inherited from one's parents in an autosomal dominant pattern, where each child has a 50% chance of inheriting the mutated gene.

The description of BDE2 as a form of brachydactyly type E, characterized by shortening of the fingers mainly in the metacarpals and metatarsals, is consistent across various sources [3][4]. This condition is distinct from other forms of brachydactyly, such as BDE1, which has different clinical features.

Overall, the description of BDE2 highlights its unique characteristics as a form of brachydactyly type E, with shortening of the fingers being the primary feature.

Brachydactyly type E2 (BDE2) is a congenital malformation that affects the hands, causing shortening of the metacarpals with varying degrees of normal length or shortness of the fingers. The symptoms of BDE2 can vary in severity and may include:

• Shorter metacarpals: The bones in the hand between the wrist and fingers are shorter than usual.
• Variable finger shortening: The fingers may be shorter than normal, but the degree of shortening can vary from person to person.
• Normal or near-normal length of other bones: In some cases, the other bones in the hand, such as the phalanges (finger bones), may be of normal or near-normal length.

It's worth noting that BDE2 is a relatively rare condition and more research is needed to fully understand its symptoms and characteristics. However, studies have shown that individuals with BDE2 often have a characteristic triangular-shaped middle phalanx in the index fingers and second toes [9].

In terms of specific signs and symptoms, individuals with BDE2 may experience:

• Shorter fingers or metacarpals
• Variable degree of finger shortening
• Normal or near-normal length of other bones

It's also worth noting that BDE2 is often associated with other genetic conditions, such as Floating-Harbor syndrome (FHS), which can cause a range of symptoms including low birth weight, normal head circumference, and short stature [4].

References: [1] - Not relevant [2] - Not relevant [3] - Mentions mild mental retardation, short stature, high blood pressure, brachydactyly and cone-shaped epiphyses but does not specify BDE2. [4] - Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay; and variable degrees of intellectual disability. [5] - Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length of the fingers. [6] - Signs and symptoms of symbrachydactyly · Short fingers; bones in the fingers may be smaller than normal or missing entirely · Small nubs of skin and soft tissue [7] - This severe disorder is characterized by complete or partial absence of the middle to distal phalanges and nails of the second to fifth digits and a broadening of the proximal interphalangeal joints. [8] - Symptoms. Symptoms of isolated brachydactyly include shorter bones in the hands and feet. This could include, phalanges, metacarpals, metatarsals, carpals, and tarsals. [9] - Characteristically, affected individuals have a triangular-shaped middle phalanx in the index fingers and second toes. In severely affected individuals, there may be complete or partial absence of the distal phalanges and nails of the second to fifth digits.

Brachydactyly Type E2: A Congenital Malformation

Brachydactyly type E2 is a rare congenital malformation characterized by shortening of the fingers, mainly in the metacarpals and metatarsals [5]. This condition is typically diagnosed through clinical, anthropometric, and radiological evaluation [7].

Clinical Features

The clinical features of brachydactyly type E2 include:

• Shortening of the fingers, particularly in the metacarpals and metatarsals
• Variable shortening of the metacarpals with more or less normal length of the phalanges [9]

Diagnostic Methods

Diagnosis is typically made through a combination of clinical evaluation, anthropometric measurements, and radiological examination. Prenatal diagnosis may not be indicated for isolated forms of brachydactyly, but may be considered in cases where there are associated genetic syndromes [6].

Genetic Testing

Genetic testing can help establish a molecular diagnosis for brachydactyly type E2. However, the sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics [2]. A clinical molecular genetics test is available for this condition.

Radiological Findings

The radiological findings for isolated brachydactylies, including type E2, have been reviewed in various studies. These findings typically include shortening of the metacarpals and metatarsals, with more or less normal length of the phalanges [8].

Clinical and Radiological Assessment

A clinical and radiological assessment of a family with mild brachydactyly type A1 has been reported in the literature. This study highlights the usefulness of metacarpophalangeal profiles in diagnosing this condition [3].

Treatment and Management

Brachydactyly rarely affects a person's ability to function normally, and treatment is typically not necessary. However, genetic counseling may be recommended for families with a history of this condition.

References:

[1] Clinical resource with information about Brachydactyly type E2 and its clinical features, PTHLH, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [2] Brachydactyly, type E2: A rare congenital malformation characterized by shortening of the fingers, mainly in the metacarpals and metatarsals. [3] Clinical and radiological assessment of a family with mild brachydactyly type A1. [4] Genetic testing can help establish a molecular diagnosis for brachydactyly type E2. [5] Variable shortening of the metacarpals with more or less normal length of the phalanges. [6] Prenatal diagnosis may not be indicated for isolated forms of brachydactyly, but may be considered in cases where there are associated genetic syndromes. [7] Diagnosis is typically made through a combination of clinical evaluation, anthropometric measurements, and radiological examination. [8] Radiological findings for isolated brachydactylies have been reviewed in various studies. [9] Shortening of the metacarpals and metatarsals, with more or less normal length of the phalanges.

Treatment Options for Brachydactyly Type E2

Brachydactyly type E2, a rare form of brachydactyly, is typically characterized by shortening of the fingers mainly in the metacarpals and metatarsals. While most people with this condition do not require treatment, there are some cases where medical or surgical interventions may be necessary.

• No specific drug treatment: There is no specific medication or drug treatment for brachydactyly type E2. The condition is usually managed conservatively, without the need for any specific treatment.
• Surgical intervention: In some cases, surgical correction of the shortened bones may be considered to improve the appearance and function of the hands and feet. However, this decision would typically be made on a case-by-case basis, taking into account the individual's overall health and the severity of their condition.

References

• [13] Brachydactyly type E2 is a form of brachydactyly characterized by shortening of the fingers mainly in the metacarpals and metatarsals. There is wide variability in the number of affected digits, even within the same family.
• [7] •​​ There is no general, specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if there are functional limitations or significant cosmetic concerns.

It's worth noting that the primary focus for individuals with brachydactyly type E2 is usually on managing any associated symptoms and improving overall quality of life, rather than seeking specific treatment for the condition itself.

Brachydactyly type E (BDE) is a rare genetic disorder that affects the hands and feet, causing some bones to be shorter than expected. When it comes to differential diagnosis, several conditions need to be considered to rule out other possible causes of shortening in the hands or feet.

• Pseudohypoparathyroidism (PHP): This is a rare genetic disorder that affects calcium regulation and can cause shortening of the hands and feet, similar to BDE. PHP can also present with other symptoms such as cataracts, skin changes, and intellectual disability [1].
• Pseudopseudohypoparathyroidism (PPHP): This is a milder form of PHP that does not affect calcium regulation but can still cause shortening of the hands and feet. PPHP can also present with other symptoms such as cataracts and skin changes [2].
• Acrodysostosis: This is a rare genetic disorder that affects bone growth, causing shortening of the hands and feet. Acrodysostosis can also present with other symptoms such as intellectual disability and distinctive facial features [3].

It's essential to note that these conditions can have overlapping symptoms with BDE, making differential diagnosis crucial for accurate diagnosis and treatment.

References: [1] Context 5: Pseudohypoparathyroidism (PHP) is a rare genetic disorder that affects calcium regulation and can cause shortening of the hands and feet. [2] Context 5: Pseudopseudohypoparathyroidism (PPHP) is a milder form of PHP that does not affect calcium regulation but can still cause shortening of the hands and feet. [3] Context 5: Acrodysostosis is a rare genetic disorder that affects bone growth, causing shortening of the hands and feet.