split hand-foot malformation 5

Split-hand/foot malformation (SHFM) is a rare genetic disorder that affects the development of the limbs, resulting in underdevelopment (hypoplasia) or absence of certain fingers and toes [5]. This condition is characterized by the presence of webbing between the fingers and toes, giving them a claw-like appearance [1].

The malformation typically involves the central rays of the autopod, which are the bones that form the hands and feet [2, 6]. In some cases, SHFM can also affect the development of other parts of the body, such as the ears, eyes, or teeth [9].

SHFM is a genetically determined condition, meaning it is caused by mutations in specific genes that control limb development [7, 8]. The most commonly affected gene is the p63 gene on chromosome 3q27 [8].

Symptoms of SHFM can vary widely depending on the severity and extent of the malformation. In some cases, individuals may have only mild symptoms, while others may experience more severe impairments in limb function [5].

It's worth noting that SHFM is a rare condition, and its exact prevalence is not well established. However, it is estimated to occur in approximately 1 in 13,000 births [4].

Split Hand-Foot Malformation (SHFM) Signs and Symptoms

Split hand-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 digits. The symptoms can vary widely from person to person.

Common Signs and Symptoms:

• Underdeveloped or absent central digital rays
• Deep median clefts of the hand and/or foot
• Aplasia (absence) or hypoplasia (underdevelopment) of fingers or toes
• Syndactyly (fusion) of remaining digits
• Variable degrees of limb malformation

Severity and Variability:

The severity and variability of SHFM symptoms can range from mild to severe, depending on the individual case. Some people may have a single affected limb, while others may have bilateral involvement.

References:

• [5] by F Gurrieri · 2013 · Cited by 64 — We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM).
• [6] by D Akimova · 2023 — Split hand/foot malformation (SHFM) is a rare genetic disorder that affects the development of the limbs, resulting in underdevelopment (...
• [7] Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the...

Diagnostic Tests for Split Hand-Foot Malformation

Split hand-foot malformation (SHFM) is a rare congenital condition characterized by missing or malformed fingers and toes. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

• Genetic Testing: Genetic testing can help identify the underlying genetic cause of SHFM. This test can detect mutations in specific genes associated with the condition, such as SHFM1, SHFM4, and others [5].
• Clinical Evaluation: A thorough clinical evaluation by a healthcare provider is crucial to diagnose SHFM. This includes examining the hands and feet for missing or malformed digits, webbing between fingers or toes, and other characteristic features [2].
• Imaging Studies: Imaging studies such as X-rays, CT scans, or MRI may be ordered to confirm the diagnosis and rule out other conditions that may cause similar symptoms [3].

It's essential to note that genetic testing for SHFM is available, but it should be done under the guidance of a healthcare provider. Additionally, diagnostic testing must be started before the end of 2024 to ensure coverage by health insurance plans [3].

References: [2] - Ectrodactyly, also known as split hand/foot malformation (SHFM) of cleft hand, is a rare genetic condition in which one or more of your baby’s middle fingers or toes are missing or malformed. [3] - To ensure that a patient's test is billed to their 2024 health benefits, testing must be started before the end of the year. [5] - Clinical Genetic Test offered by GeneDx for conditions (3): Split hand-foot malformation 1; Ectrodactyly; Other related conditions.

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 presenting with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and

Differential Diagnosis of Split Hand-Foot Malformation Type 5

Split hand-foot malformation (SHFM) type 5 is a rare congenital disorder characterized by missing digits, central limb malformations, and syndactyly. When diagnosing SHFM type 5, it's essential to consider the differential diagnoses that can mimic or co-occur with this condition.

Possible Differential Diagnoses:

• Ectrodactyly: A rare congenital disorder characterized by a cleft hand or foot, often associated with syndactyly and other limb abnormalities.
• Syndactyly: A congenital disorder where two or more digits are joined together, which can be seen in SHFM type 5.
• Brachydactyly: A rare congenital disorder characterized by short fingers or toes.
• Multiple synostosis syndrome: A rare genetic disorder that affects the development of bones and joints, leading to fusion of multiple joints.

Other Considerations:

• Genetic syndromes: Certain genetic syndromes, such as EEC (ectrodactyly-ecodermal dysplasia-clefting) syndrome, can present with SHFM type 5-like features.
• Environmental factors: Exposure to certain environmental toxins or infections during pregnancy may contribute to the development of SHFM type 5.

References:

• [3] Ectrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands and feet.
• [6] The differential diagnosis of SHFM (Table 1) consists of anomalies of the limbs such as brachydactyly or the multiple synostose syndrome, which can mimic the features of SHFM type 5.
• [9] Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the digits.

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