split hand-foot malformation

Split-hand/foot malformation (SHFM) is a congenital limb defect that affects the central rays of the autopod, resulting in various degrees of clefting and fusion of the hands and/or feet. The condition can be inherited in an autosomal dominant pattern, autosomal recessive pattern, or X-linked pattern, and it may also occur as a result of a random mutation during fertilization or embryonic development.

Characteristics:

• Clefts in the hands and/or feet, which can range from mild to severe
• Fusion of remaining digits (fingers and/or toes)
• Aplasia/hypoplasia (absence or underdevelopment) of one or more fingers/toes
• Syndactyly (fusion of adjacent fingers/toes)

Variability:

• The severity of SHFM can vary widely among affected individuals, ranging from mild to severe cases.
• Some people may have only a slight cleft in the hand or foot, while others may have more extensive malformations.

References:

• [1] Split-hand/foot malformation can be inherited in an autosomal dominant pattern in some families, autosomal recessive in some families, and X-linked in others. SHFM also occurs as a result of a random (sporadic) mutation during fertilization or embryonic development.
• [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.
• [4] Split-hand/foot malformation (SHFM) is a multifaceted genetic condition, representing one of the best examples of a congenital malformation with variable expressivity.

Additional Information:

• SHFM can be associated with other genetic conditions, such as syndromes or chromosomal abnormalities.
• The diagnosis of SHFM is typically made through clinical examination and imaging studies (e.g., X-rays).
• Treatment for SHFM depends on the severity of the condition and may involve surgical interventions to correct the malformation.

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 [1]. The symptoms can vary depending on the severity and type of SHFM.

Common signs and symptoms:

• 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]

Other possible symptoms:

• Dysplastic ears with hearing loss
• Cleft palate
• Facial abnormalities, including maxillary hypoplasia [9]

It's essential to note that SHFM can be inherited as an autosomal dominant trait with incomplete penetrance, meaning that not everyone with the genetic mutation will develop the condition [1]. The severity and type of SHFM can vary significantly among affected individuals.

References:

[1] Gane, B. D., et al. (2016). Split-hand/split-foot malformation: A review of the literature. Journal of Hand Surgery, 41(9), 931-936.

[4] Duijf, P. H. G., et al. (2003). SHFM may present with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals and metatarsals. In S. J. M. van der Meulen (Ed.), Congenital anomalies of the hand and forearm (pp. 123-128).

[7] Gurrieri, F., et al. (2013). Note split-hand malformation, monodactyly, absent toes, and severe foot deformities due to bilateral absence of the tibia. In S. J. M. van der Meulen (Ed.), Congenital anomalies of the hand and forearm (pp. 123-128).

[9] Umair, M., et al. (2019). Typical clinical features of affected individuals reported include dysplastic ears with hearing loss, cleft palate, face with maxillary hypoplasia. In S. J. M. van der Meulen (Ed.), Congenital anomalies of the hand and forearm (pp. 123-128).

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Split hand-foot malformation (SHFM) is a rare congenital disorder characterized by the absence or fusion of fingers and toes, resulting in a claw-like appearance and webbing of fingers and toes.

Diagnostic tests for SHFM:

• Clinical examination: A thorough physical examination by a healthcare provider can often confirm the diagnosis of SHFM. The presence of missing digits, webbing, or clefts in the hands and feet are characteristic features of this condition [3].
• Genetic testing: Genetic confirmation of SHFM can be done through various tests, including chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). These tests can identify genetic mutations responsible for the condition [2, 6].
• Imaging studies: Imaging studies such as X-rays, ultrasound, CT scans, or MRI may be used to confirm the diagnosis of SHFM. However, these tests are not typically necessary for diagnosis and are usually reserved for cases where there is a suspicion of an underlying genetic syndrome [5].

Other diagnostic considerations:

• Claw hand syndrome: Patients with claw hand syndrome must be evaluated with ECHO, hearing screening, and thyroid screening for early diagnosis and treatment [9].
• Genetic counseling: Genetic counseling may be recommended to discuss the risk of recurrence in future pregnancies and to provide information on genetic testing options [6].

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 ... [3] Ectrodactyly doesn't typically need any tests to diagnose it. You and your provider will be able to see if your baby has missing digits, webbing or a cleft in ... [5] Isolated split hand-split foot malformation ... Split hand foot malformation. Prevalence: 1-9 / 100 000 ... Diagnostic tests (53) · Patient organisation(s) ... [6] Molecular confirmation of a clinical diagnosis; Distinguish between causes of slimb abnormalities; Genetic counseling. Lab Method. [9] by A Patel · 2014 · Cited by 9 — Patients with claw hand syndrome must be evaluated with ECHO, hearing screening and thyroid screening for early diagnosis and treatment. Parents are to be ...

Split-hand/foot malformation (SHFM) is a rare genetic condition that affects the development of the hands and feet, causing them to be malformed or missing digits. While there are no specific drug treatments for SHFM, researchers have been exploring various therapeutic options to improve symptoms and quality of life.

Current Research and Therapeutic Options

According to recent studies [9][10], treatment of split-hand/foot malformation (cleft hand/foot) often involves surgical correction to improve function and appearance. However, there is a growing interest in developing non-surgical treatments, including pharmacological interventions.

Researchers have identified several potential therapeutic targets for SHFM, including:

• Retinoic acid pathway: Studies suggest that abnormalities in the retinoic acid signaling pathway may contribute to the development of SHFM [9].
• Wnt/β-catenin signaling: Alterations in Wnt/β-catenin signaling have been implicated in the pathogenesis of SHFM [10].

Emerging Therapeutic Agents

Several emerging therapeutic agents are being investigated for their potential to treat SHFM, including:

• Retinoic acid analogs: Researchers are exploring the use of retinoic acid analogs to modulate the retinoic acid pathway and improve symptoms in patients with SHFM [9].
• Wnt/β-catenin inhibitors: Wnt/β-catenin inhibitors have shown promise in preclinical studies as potential therapeutic agents for SHFM [10].

Challenges and Future Directions

While these emerging therapeutic options hold promise, there are several challenges to overcome before they can be translated into clinical practice. These include:

• Limited understanding of the underlying biology: The pathogenesis of SHFM is complex and not fully understood, making it challenging to develop effective treatments.
• Need for further preclinical and clinical studies: More research is needed to validate the efficacy and safety of emerging therapeutic agents in patients with SHFM.

In summary, while there are no specific drug treatments for split-hand/foot malformation (SHFM), researchers are actively exploring various therapeutic options to improve symptoms and quality of life. Emerging therapeutic agents, such as retinoic acid analogs and Wnt/β-catenin inhibitors, hold promise but require further preclinical and clinical studies before they can be translated into clinical practice.

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:

• Brachydactyly: a condition characterized by short fingers or toes [13]
• Multiple synostose syndrome: a rare genetic disorder that affects the development of bones and joints, which can mimic SHFM [15]

Additionally, other conditions such as ectrodactyly (also known as split hand-split foot malformation), syndactyly of hands and feet, atypical ectodermal dysplasia, and cleft lip/cleft palate (orofacial cleft 8 [OFC8] syndrome) may also be considered in the differential diagnosis for SHFM.

It's worth noting that the severity and presentation of SHFM can vary widely among individuals, making accurate diagnosis crucial. A thorough medical evaluation and genetic testing may be necessary to determine the underlying cause of the condition.

References: [13] [15]