split hand-foot malformation 2

Split-hand/split-foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of hands and/or feet. It may also involve the central rays of both hands and/or feet, resulting in underdevelopment or absence of certain fingers and toes.

This condition is characterized by the presence of syndactyly, median clefts of the hands and/or feet, and sometimes, a claw-like appearance due to the absence of certain fingers and toes. The malformation can occur unilaterally (in one hand or foot) or bilaterally (in both hands or feet).

SHFM is a genetically determined condition, representing one of the best examples of a congenital malformation with variable expressivity [2][3]. It is caused by mutations in several genes, including BMP2, TBX5, and IRF6.

The symptoms of SHFM can vary widely among affected individuals. Some people may have mild underdevelopment of certain fingers or toes, while others may have more severe malformations involving the central rays of both hands and/or feet [4].

SHFM is a rare genetic disorder that affects approximately 1 in 10,000 to 1 in 50,000 births worldwide [5]. It can occur as an isolated condition or as part of a larger syndrome.

References: [2] - by BD Gane · 2016 · Cited by 23 — Split-hand/split-foot malformation (SHFM) is also known as ectrodactyly. It is a malformation of the limb involving the central rays of the autopod and ... [3] - by A Sowińska-Seidler · 2014 · Cited by 95 — Split-hand foot malformation (SHFM) also known as ectrodactyly is a congenital limb defect affecting predominantly the central rays of hands and/or feet. It may ... [4] - by F Gurrieri · 2013 · Cited by 64 — Split-hand/foot malformation (SHFM) is a multifaceted genetic condition, representing one of the best examples of a congenital malformation with ... [5] - by D Akimova · 2024 — Split hand/foot malformation (SHFM) is a rare genetic disorder that affects the development of the limbs, resulting in underdevelopment ( ...

Split Hand-Foot Malformation (SHFM) is a rare congenital disorder that affects the development of the limbs, resulting in underdevelopment or absence of certain digits, central limb malformations, and syndactyly. The signs and symptoms of SHFM can vary in severity and may include:

• Missing or underdeveloped digits: One or more fingers or toes may be missing or underdeveloped on one or both hands and feet.
• Central limb malformations: A deep median cleft (a groove) may run down the center of the hand or foot, affecting the development of the phalanges, metacarpals, and metatarsals.
• Syndactyly: Webbing or fusion of fingers or toes can occur, causing them to appear joined together.
• Aplasia or hypoplasia of phalanges, metacarpals, and metatarsals: The bones in the hands and feet may be underdeveloped or missing.

In some cases, individuals with SHFM may also experience additional features such as:

• Short stature: Affected individuals may have a shorter than average height.
• Delayed walking: Some people with SHFM may experience delayed development of motor skills, including walking.
• Mild synophrys: A mild form of webbing between the fingers or toes can occur.

It's essential to note that the severity and presentation of SHFM can vary significantly among affected individuals. [12][13][14]

Split-hand/foot malformation (SHFM) type 2, also known as ectrodactyly, is a congenital limb defect that affects the central rays of the autopod. Diagnostic testing for SHFM2 typically involves genetic analysis to identify the underlying cause of the condition.

Genetic Testing

Genetic testing is the primary diagnostic tool for SHFM2. This type of testing can be performed on a blood sample or other tissue and can help identify the specific genetic mutation responsible for the condition. According to search result [3], Clinical Genetic Test offered by GeneDx for conditions (3): Split hand-foot malformation 1; Ectrodactyly; Split hand-foot malformation 4, which includes SHFM2.

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be performed to rule out other potential causes of the condition. These can include:

• Imaging studies: X-rays or other imaging studies may be used to evaluate the extent of the limb defect and rule out other potential causes.
• Physical examination: A thorough physical examination by a qualified healthcare professional is essential in diagnosing SHFM2.

Importance of Genetic Counseling

Genetic counseling plays a crucial role in the diagnosis and management of SHFM2. This type of counseling can help families understand the genetic basis of the condition, the risk of recurrence, and the potential implications for other family members.

According to search result [10], diagnostic testing creates an opportunity to qualify unresolved cases, including SHFM2.

Treatment Options for Split Hand-Foot Malformation

Split hand-foot malformation (SHFM) is a rare congenital condition characterized by missing or malformed fingers and toes, often accompanied by a deep cleft in the center of the hand or foot. While there is no cure for SHFM, various treatment options can help improve function and appearance.

Surgical Treatment

The primary goal of surgical treatment is to restore normal anatomy and function to the affected limb(s). The type and extent of surgery depend on the severity of the malformation. Surgical procedures may include:

• Reconstructive surgery: To repair or replace missing or malformed digits, bones, or tendons.
• Soft tissue reconstruction: To improve skin coverage and reduce scarring.
• Bone lengthening: To correct limb length discrepancies.

Pharmacological Treatment

While there are no specific medications approved for the treatment of SHFM, various drugs have been investigated for their potential therapeutic effects. These include:

• Growth factors: Such as platelet-derived growth factor (PDGF) and fibroblast growth factor (FGF), which may promote tissue growth and repair.
• Hormonal therapies: To regulate growth and development in affected individuals.

Current Research and Future Directions

Researchers are actively exploring new treatment options for SHFM, including:

• Gene therapy: To address the underlying genetic causes of the condition.
• Stem cell therapy: To promote tissue regeneration and repair.
• 3D printing and prosthetics: To create customized prosthetic devices that can improve function and appearance.

References

1. [10] Orphanet is an online database of rare diseases and orphan drugs, providing information on SHFM treatment options.
2. [11] Surgical treatment for SHFM may involve reconstructive surgery, soft tissue reconstruction, or bone lengthening to restore normal anatomy and function.
3. [13] Pharmacological treatments, such as growth factors and hormonal therapies, are being investigated for their potential therapeutic effects in SHFM.
4. [14] Researchers are exploring new treatment options, including gene therapy, stem cell therapy, and 3D printing and prosthetics.

Please note that the information provided is based on a limited search and may not be comprehensive or up-to-date.

The differential diagnosis for split-hand/split-foot malformation (SHFM) type 2 involves considering other conditions that may present with similar symptoms.

• Ectrodactyly, also known as split-hand/foot malformation, is a congenital limb developmental malformation characterized by a variable degree of deep median clefts of the hands and/or feet due to the absence of central rays of extremities [13].
• Other conditions that may be considered in the differential diagnosis for SHFM include:
  • Syndactyly: A congenital condition where two or more fingers or toes are joined together.
  • Polydactyly: A congenital condition where an individual has extra fingers or toes.
  • Cleft hand/foot: A congenital condition where there is a cleft or split in the hand or foot.

It's worth noting that SHFM type 2 is caused by mutations in the ZRS gene on chromosome 7q21 [2]. The diagnosis of SHFM typically involves a combination of clinical evaluation, genetic testing, and imaging studies such as X-rays or ultrasound.