split hand-foot malformation 1

Split-hand/foot malformation (SHFM) is a congenital limb defect that affects the development of the hands and/or feet, resulting in underdevelopment or absence of certain fingers and toes [2]. It is characterized by the presence of syndactyly, median clefts of the hands and/or feet, and webbing of fingers and toes [1][6].

SHFM can occur as an isolated condition or as part of a larger genetic syndrome [4]. The malformation typically affects the central rays of the autopod (the main part of the hand or foot), leading to underdevelopment or absence of the middle fingers or toes [3][7].

Symptoms of SHFM may include:

• Absence or underdevelopment of certain fingers and toes
• Syndactyly (fusion of two or more fingers or toes)
• Median clefts in the hands and/or feet
• Webbing of fingers and toes

SHFM is a rare genetic disorder that can be caused by mutations in various genes, including those involved in limb development [5]. The condition is typically diagnosed at birth or during early childhood.

References: [1] Oct 21, 2020 — It is characterized by absence of certain fingers and toes (ectrodactyly) that suggest a claw-like appearance and webbing of fingers and toes ... [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 ( ... [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 ...

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 [3][5]. The symptoms can vary in severity and may include:

• Underdeveloped or absent central digital rays
• Clefts of hands and feet
• Variable syndactyly (webbing) of the fingers and toes
• Absence or underdevelopment of phalanges, metacarpals, and metatarsals [4]
• Bilateral absence of the tibia [7]

In some cases, SHFM may also be associated with other symptoms such as dysplastic ears, hearing loss, cleft palate, and facial abnormalities [9]. The severity and type of symptoms can vary depending on the individual and the specific genetic mutation involved.

It's worth noting that SHFM is a rare condition and its symptoms can range from mild to severe. If you or someone you know has been diagnosed with SHFM, it's essential to consult with a medical professional for proper evaluation and management of the condition.

Diagnostic Tests for Split Hand-Foot Malformation 1

Split hand-foot malformation 1 (SHFM1) is a congenital limb malformation that can be diagnosed through various diagnostic tests. Here are some of the common diagnostic tests used to diagnose SHFM1:

• Genetic Testing: Genetic testing is the primary diagnostic tool for SHFM1. It involves analyzing the genes responsible for the condition, such as DLX5 and TRPS1 [2]. This test can confirm the diagnosis and rule out other genetic conditions.
• Imaging Studies: Imaging studies like X-rays, CT scans, or MRI scans are used to visualize the affected limbs and confirm the presence of SHFM1 [9].
• Physical Examination: A thorough physical examination by a healthcare provider is essential in diagnosing SHFM1. The provider will examine the hands and feet for any abnormalities, such as syndactyly, median clefts, or aplasia/hypoplasia of phalanges, metacarpals, and metatarsals [14].
• Clinical Evaluation: A clinical evaluation by a geneticist or a medical geneticist is also important in diagnosing SHFM1. They will assess the individual's overall health, family history, and any other symptoms that may be present.

Additional Diagnostic Tests

In some cases, additional diagnostic tests may be necessary to rule out other conditions or to confirm the diagnosis of SHFM1. These tests may include:

• Echocardiogram: An echocardiogram may be performed to evaluate heart function in individuals with SHFM1 [8].
• Hearing Screening: Hearing screening is essential for individuals with SHFM1, as they are at risk for hearing loss [8].

Early Diagnosis and Treatment

Early diagnosis and treatment of SHFM1 can significantly improve outcomes. Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis [10]. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.

References:

[2] - Clinical Molecular Genetics test for Split hand-foot malformation 1 with sensorineural hearing loss and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics. [8] - Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. [9] - Split hand-foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. [10] - Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis.

Treatment Options for Split Hand-Foot Malformation

Split hand-foot malformation (SHFM), also known as ectrodactyly, is a congenital limb malformation that affects the 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 Management: The primary goal of surgical management is to restore function and appearance to the affected limbs. Surgery may involve correcting the clefts in the hands and feet, repositioning or removing abnormal tissue, and reconstructing the digits.
  • According to a study by S Guero (2019), the actual surgical management for split hand depends on the complexity of the malformation and the first web. If the first web is normal, we can proceed with surgery to correct the clefts and restore function [5].
• Physical Therapy and Occupational Therapy: Physical therapy and occupational therapy may be recommended to improve mobility, strength, and dexterity in the affected limbs.
  • In some cases, children with SHFM may simply need physical therapy and/or occupational therapy to manage their condition [2].
• Pain Management: Pain management is an essential aspect of treating SHFM. Medications such as analgesics and pain relievers can help alleviate discomfort and pain.
  • According to a review by D Akimova (2024), insights into the pathogenesis and treatment of split/hand foot malformation highlight the importance of pain management in improving quality of life [9].
• Genetic Counseling: Genetic counseling is essential for families with a history of SHFM. It can help identify genetic factors contributing to the condition and provide guidance on reproductive options.
  • A study by A Sowińska-Seidler (2014) emphasizes the importance of genetic counseling in managing SHFM, particularly in sporadic cases [6].

It is essential to consult with a qualified specialist, such as an orthopedic surgeon or a geneticist, to determine the best course of treatment for individual cases of SHFM.

References:

[1] Not provided (initial query)

[2] Context 2

[5] Context 5

[6] Context 6

[9] Context 9

The differential diagnosis for split hand-foot malformation (SHFM) involves considering various conditions that can present with similar symptoms. According to the provided context, some of these conditions include:

• Amniotic band syndrome: This condition is characterized by the presence of fibrous bands or strands that can cause deformities in the hands and feet [10].
• Ectrodactyly - ectodermal dysplasia – cleft syndrome: This rare genetic disorder involves split hand-foot malformation, syndactyly (webbing between fingers/toes), and other ectodermal abnormalities [2].
• Holt-Oram syndrome: This is a genetic condition that affects the development of the hands and feet, often presenting with split hand-foot malformations [10].

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

In addition to these conditions, other anomalies such as brachydactyly or multiple synostose syndrome can also mimic the symptoms of SHFM [6]. A thorough evaluation by a medical professional is necessary to determine the correct diagnosis and develop an appropriate treatment plan.