split hand-foot malformation 6

Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and/or feet, and sometimes other associated anomalies. This condition can result in underdevelopment or absence of certain fingers and toes, giving them a claw-like appearance and webbing.

SHFM is characterized by the presence of ectrodactyly, which refers to the absence or underdevelopment of certain fingers and toes. The central rays of the autopod (the main part of the hand or foot) are affected, leading to syndactyly (webbing between fingers or toes), median clefts (clefts in the middle of the hands or feet), and sometimes other associated anomalies.

The symptoms of SHFM can vary widely among individuals, but they often include:

• Absence or underdevelopment of certain fingers and toes
• Webbing between fingers or toes (syndactyly)
• Median clefts in the hands or feet
• Other associated anomalies, such as extra digits or abnormalities in the shape of the hands or feet

SHFM is a rare genetic disorder that affects the development of the limbs. It can occur in isolation or as part of a larger syndrome.

References:

• [2] Split-hand/split-foot malformation (SHFM) is also known as ectrodactyly.
• [3] Split-hand foot malformation (SHFM) also known as ectrodactyly is a congenital limb defect affecting predominantly the central rays of hands and/or feet.
• [6] Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands ...
• [7] by M Umair · 2019 · Cited by 29 — Split-hand/foot malformation (SHFM) is a genetic limb anomaly disturbing the central rays of the autopod. SHFM is a genetically ...

Signs and Symptoms of Split Hand-Foot Malformation

Split Hand-Foot Malformation (SHFM) is a rare congenital disorder characterized by abnormalities in the hands and feet. The signs and symptoms of SHFM can vary depending on the severity and type of the condition.

• Median clefts: A deep median cleft or groove in the hand and/or foot is a common feature of SHFM [1].
• Aplasia/hypoplasia of phalanges, metacarpals, and metatarsals: Some individuals with SHFM may have missing or underdeveloped digits, metacarpals, and metatarsals [2].
• Syndactyly: Webbing or fusion of the fingers or toes can also occur in some cases of SHFM [3].
• Missing digits: In severe cases, SHFM can result in the complete absence of one or more digits [4].
• Central limb malformations: The hands and feet may appear abnormal due to central limb malformations, which can include a deep groove or cleft [5].

It's worth noting that the severity and type of SHFM can vary widely among affected individuals. Some cases may be mild, while others can be more severe.

References: [1] Elliott and Evans (2006) [2] BD Gane (2016) [3] D Akimova (2024) [4] PHG Duijf (2003) [5] F Gurrieri (2013)

Based on the provided context, here are some diagnostic tests associated with split hand-foot malformation:

• Genetic testing: Genetic testing for the genes previously discussed is available to further support the initial diagnosis [1]. This can help identify the underlying genetic cause of the condition.
• Prenatal ultrasound: Prenatal ultrasound at 24 weeks can diagnose isolated split-hand/split-foot malformation in a fetus [6].
• Exome sequencing: Exome sequencing has been shown to have high diagnostic yield and accuracy for identifying genetic causes of split hand–foot malformation in Chinese patients [8].

Additionally, it's worth noting that some tests may be used to rule out other conditions or to assess the severity of the condition. For example:

• ECHO (echocardiogram): Patients with claw hand syndrome must be evaluated with ECHO, hearing screening, and thyroid screening for early diagnosis and treatment [9].
• Imaging services: Imaging services such as X-ray, ultrasound, CT, and MRI may be used to assess the severity of the condition or to rule out other conditions [10, 13].

Please note that these tests are not an exhaustive list and may vary depending on individual cases. It's always best to consult with a medical professional for personalized advice.

References: [1] Context result 1 [6] Context result 6 [8] Context result 8 [9] Context result 9 [10] Context result 10 [13] Context result 13

Treatment Options for Split Hand-Foot Malformation

Split-hand foot malformation (SHFM), also known as ectrodactyly, is a congenital limb defect

Split-hand/foot malformation (SHFM) is a congenital limb defect that can be challenging to diagnose, as it presents with various clinical features and can be associated with multiple genetic conditions. A differential diagnosis for SHFM involves considering other conditions that may present with similar symptoms.

Conditions to consider:

• Ectrodactyly: This condition is characterized by the absence or partial absence of fingers or toes, which can resemble the claw-like appearance seen in SHFM.
• Syndactyly: This condition involves webbing or fusion of fingers or toes, which can be mistaken for median clefts in SHFM.
• Aplasia or hypoplasia of single digital ray: This condition involves the absence or underdevelopment of a single digit, which can be similar to the findings in SHFM.

Genetic conditions to consider:

• SHFM1: This is one of the six types of SHFM and is characterized by ectrodactyly, split hand/foot, aplasia or hypoplasia of single digital ray.
• SHFM2-6: These are other types of SHFM that can present with similar clinical features to SHFM1.

Other conditions to consider:

• Congenital limb deficiencies: These can involve the absence or underdevelopment of limbs and may be mistaken for SHFM.
• Vascular malformations: These can cause abnormalities in blood flow and may lead to changes in limb development, which can resemble SHFM.

It's essential to note that a definitive diagnosis of SHFM requires genetic testing and clinical evaluation by a specialist. A thorough differential diagnosis is crucial to rule out other conditions and ensure accurate diagnosis and management of the condition.

References:

• [5] Split-Hand/Foot Malformation results from abnormalities in multiple genomic locations and includes 6 types of disease (Sowinska-Seidler et al., 2014).
• [3] The hallmark clinical features associated with SHFM1 include ectrodactyly, split hand/foot, aplasia or hypoplasia of single digital ray (Umair, 2020).
• [7] SHFM may present with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals and metatarsals (Duijf et al., 2003).