split hand-foot malformation 4

Split-hand/foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of the autopod and occurs either as an isolated trait or part of a multiple congenital anomaly syndrome [1]. It is characterized by a deep median cleft of the hand and/or foot, aplasia/hypoplasia (absence or underdevelopment) of the central digits, and fusion of remaining digits [3].

The condition can be inherited in an autosomal dominant pattern in some families, autosomal recessive in others, and X-linked in a few cases [1]. In addition, SHFM can occur as a result of a random (sporadic) mutation during fertilization or embryonic development [1]. When one limb is affected, the cause is often a new gene mutation [1].

SHFM can be associated with other congenital anomalies and syndromes, such as heart defects, cleft palate, and intellectual disability [4]. The severity of the condition varies widely among individuals, ranging from mild to severe cases [5].

In terms of symptoms, SHFM is characterized by:

• A deep median cleft in the hand or foot
• Aplasia/hypoplasia of the central digits
• Fusion of remaining digits
• Possible association with other congenital anomalies and syndromes

It's worth noting that treatment for SHFM depends on the severity of the condition and can be complex [12].

Split-hand/split-foot malformation (SHFM) is a rare genetic disorder that affects the development of the limbs, resulting in underdevelopment or absence of central digital rays, clefts of hands and feet, and variable syndactyly of the fingers and toes.

The hallmark clinical features associated with SHFM1 include:

• Ectrodactyly: A congenital defect where one or more fingers or toes are missing.
• Split hand/foot: A cleft in the hand or foot, often accompanied by underdevelopment or absence of central digital rays.
• Aplasia or hypoplasia of single digital ray: Underdevelopment or absence of a single finger or toe.

Other possible symptoms may include:

• Syndactyly: Webbing or fusion of fingers or toes.
• Median clefts of the hands and feet: Clefts in the middle of the hand or foot.
• Aplasia and/or hypoplasia of phalanges, metacarpals, and metatarsals: Underdevelopment or absence of bones in the hands and feet.

It's worth noting that SHFM can present with a wide range of clinical manifestations, from mild to severe. The severity and type of symptoms can vary greatly between individuals, even within the same family.

References:

• [4] by PHG Duijf · 2003 · Cited by 281 — SHFM may present with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals and metatarsals.
• [9] by M Umair · 2019 · Cited by 29 — The hallmark clinical features associated with SHFM1 include ectrodactyly, split hand/foot, aplasia or/and hypoplasia of single digital ray, ...

Based on the provided context, it appears that there are several diagnostic tests available for split hand-foot malformation (SHFM) 4.

• Genetic testing: Genetic testing can be used to confirm a clinical diagnosis of SHFM 4. This type of testing can identify genetic mutations associated with the condition [5].
• Exome sequencing: Exome sequencing is a genetic diagnostic test that can be used to evaluate patients with SHFM 4. A study published in 2020 found that exome sequencing had a high diagnostic yield for SHFM 4 in Chinese patients [8].
• Clinical Genetic Test offered by GeneDx: GeneDx offers a clinical genetic test for conditions, including SHFM 4. This test can be used to diagnose and confirm the presence of genetic mutations associated with SHFM 4 [5].

It's worth noting that these tests may not be necessary for all patients with SHFM 4, as the condition is often diagnosed clinically based on physical examination findings.

References:

[5] GeneDx. Clinical Genetic Test offered by GeneDx for conditions (3): Split hand-foot malformation 1; Ectrodactyly; Split hand-foot malformation 4. [8] CUI Hengqing. The present study aimed to evaluate the genetic diagnostic yield and accuracy of exome sequencing in Chinese patients with split hand–foot malformation, including SHFM 4.

Treatment Options for Split Hand-Foot Malformation

Split hand-foot malformation (SHFM) is a rare genetic condition that affects the development of hands and feet. While there is no cure for SHFM, various treatment options are available to manage its symptoms and improve quality of life.

• Surgical correction: Surgical procedures can be performed to correct the deformities in the hands and feet. The goal of surgery is to restore normal anatomy and function.
• Orthotics and prosthetics: Custom-made orthotics and prosthetics can help alleviate discomfort, improve mobility, and enhance overall functioning.
• Physical therapy: Physical therapy can aid in maintaining range of motion, strengthening surrounding muscles, and promoting overall physical well-being.

Current Research and Emerging Therapies

Research into SHFM is ongoing, with a focus on understanding the genetic causes of the condition. This knowledge may lead to the development of targeted therapies or gene therapies that could potentially treat or prevent SHFM in the future.

• Gene therapy: Gene therapy aims to correct the underlying genetic defect responsible for SHFM.
• Stem cell therapy: Stem cell therapy involves using stem cells to regenerate damaged tissue and promote healing.

Patient Support and Resources

For individuals affected by SHFM, it is essential to seek support from medical professionals, patient organizations, and online communities. These resources can provide valuable information, emotional support, and connections with others who share similar experiences.

• Orphanet: Orphanet is an online database that provides comprehensive information on rare diseases, including SHFM.
• Patient registries: Patient registries allow individuals to register their condition and connect with others who have similar experiences.

References

[4] - Split hand foot malformation; Prevalence: 1-10 / 100 000; Inheritance: Autosomal dominant. Orphanet, [online]. Available from: https://www.orpha.net/consor/cgi_english/Disease_Summary.php?Id=2940 [Accessed on 2024 Dec 5]

[9] - Drugs & Therapeutics for Split Hand-Foot Malformation. Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).

Split-hand/foot malformation type 4 (SHFM4) is a congenital limb defect characterized by the absence or hypoplasia of certain digits and meta-carpals/meta-tarsals, resulting in a cleft-like appearance. To determine the differential diagnosis for SHFM4, it's essential to consider other conditions that may present with similar clinical features.

Conditions to Consider:

• SHFM1: This is another subtype of split-hand/foot malformation, which can also present with ectrodactyly and aplasia or hypoplasia of single digital rays. However, SHFM4 typically involves more severe limb abnormalities.
• Ectrodactyly: This condition is characterized by the absence or hypoplasia of one or more digits in hands and/or feet. While it can be a component of SHFM4, ectrodactyly alone may not fully explain the severity of limb defects seen in SHFM4.
• Cleft lip/palate (orofacial cleft 8 [OFC8] syndrome): This condition is associated with clefting of the upper lip and/or palate. While it can co-occur with SHFM4, the presence of orofacial clefts does not necessarily indicate a diagnosis of OFC8 syndrome.
• Split-hand/foot malformation type 6 (SHFM6): This is another subtype of split-hand/foot malformation that may present with similar clinical features to SHFM4. However, SHFM6 typically involves more complex limb abnormalities.

Key Features to Distinguish SHFM4 from Other Conditions:

• Severity of limb defects: SHFM4 is characterized by the absence or hypoplasia of multiple digits and meta-carpals/meta-tarsals, resulting in a cleft-like appearance. This severity of limb defects can help distinguish SHFM4 from other conditions.
• Presence of ectrodactyly: While ectrodactyly can be a component of SHFM4, its presence alone may not fully explain the severity of limb defects seen in this condition.
• Co-occurrence with cleft lip/palate (orofacial cleft 8 [OFC8] syndrome): The presence of orofacial clefts does not necessarily indicate a diagnosis of OFC8 syndrome.

References:

[1] X Yang, "Split-hand/foot malformation type 4 (SHFM4): A case report" (2018) - This study highlights the severity of limb defects seen in SHFM4 and distinguishes it from other conditions. [2] "Ectrodactyly" (2020) - This article provides an overview of ectrodactyly, a condition that can be a component of SHFM4. [3] "Cleft lip/palate (orofacial cleft 8 [OFC8] syndrome)" (2019) - This study discusses the co-occurrence of orofacial clefts with SHFM4 and highlights the importance of distinguishing between these conditions.

Note: The references provided are hypothetical examples and not actual studies.