syndactyly type 4

Syndactyly Type 4: A Rare Congenital Anomaly

Syndactyly type 4, also known as SDTY4 or complete bilateral syndactyly, is a rare non-syndromic congenital anomaly characterized by the complete fusion of all fingers on both hands. This condition is often accompanied by polydactyly, which is the presence of extra fingers.

Key Features:

• Complete bilateral cutaneous fusion of all fingers
• Polydactyly, usually involving six digits and six toes
• Cup-shaped hands due to flexion of the fingers

According to [6], syndactyly type 4 is characterized by complete syndactylism of all the fingers accompanied by polydactyly and cup-shaped hands. This condition can be caused by genetic mutations, also known as pathogenic variants, which can be hereditary or occur randomly when cells are dividing [10].

Prevalence:

Syndactyly type 4 is a very rare congenital distal limb malformation, with only a few reported cases in the medical literature. According to [14], syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly involving all digits 1 to

Syndactyly Type 4 Signs and Symptoms

Syndactyly type 4, also known as complete bilateral cutaneous fusion of all fingers, is a rare non-syndromic condition characterized by the fusion of all fingers on both hands. This condition is frequently associated with polydactyly, which involves the presence of extra fingers or toes.

Key Signs and Symptoms:

• Complete bilateral cutaneous fusion of all fingers
• Polydactyly, typically involving six digits and six metacarpals
• Phalanges may fuse as a conglomerate mass of bones
• The condition is usually present at birth (congenital)

According to the provided context [14], syndactyly type 4 is characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly. This condition can also involve the fusion of phalanges as a conglomerate mass of bones.

Additional Information:

Syndactyly type 4 is considered a rare non-syndromic condition, and its exact prevalence is not well-documented. However, it is worth noting that syndactyly in general is the most common congenital hand difference, occurring in one to two out of 1000 children [13].

It's essential to consult with a medical professional for an accurate diagnosis and treatment plan if you suspect your child may have syndactyly type 4.

Diagnostic Tests for Syndactyly Type 4

Syndactyly type 4, a rare non-syndromic condition characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly [2]. While syndactyly type 4 can be diagnosed clinically, diagnostic tests may be ordered to confirm the diagnosis and assess the extent of the fusion.

Clinical Diagnosis

In most cases, syndactyly type 4 is diagnosed clinically, without the need for any tests. The presence of webbed digits on the hands or feet is usually sufficient for a clinical diagnosis [3].

Radiographs

However, radiographs (x-rays) may be ordered to help determine if the syndactyly is complete/complex and to assess the extent of the fusion [6]. This can provide valuable information for surgical planning.

Genetic Testing

Genetic testing may also be considered to confirm the diagnosis and identify any underlying genetic mutations. This can involve a blood test to check for gene mutations or deletions/duplications analysis, such as Multiplex Ligation-dependent Probe Amplification (MLPA) [13].

Diagnostic Teams

A diagnostic team for syndactyly type 4 may include genetics, orthopedics, and other specialists who can provide comprehensive care and coordinate providers as needed [10]. This multidisciplinary approach ensures that patients receive the best possible care.

In summary, while clinical diagnosis is often sufficient, radiographs and genetic testing may be ordered to confirm the diagnosis and assess the extent of the fusion in syndactyly type 4. A diagnostic team comprising genetics, orthopedics, and other specialists can provide comprehensive care for this condition.

References: [2] - Disease definition. [3] - What tests will be done to diagnose syndactyly? [6] - by A Cassim · 2022 · Cited by 10 [10] - Learn about diagnosis and specialist referrals for Syndactyly type 4. [13] - Clinical Molecular Genetics test for Syndactyly type 4.

Differential Diagnoses for Syndactyly Type 4

Syndactyly type 4 (SD4) is a rare congenital anomaly characterized by the complete fusion of all digits in the hand. When diagnosing SD4, it's essential to consider other conditions that may present with similar symptoms. The following are some differential diagnoses for syndactyly type 4:

• Preaxial polydactyly type 4: This condition involves an extra digit on the radial side of the hand, which can be confused with SD4 due to its similar appearance.
• GCPS contiguous gene syndrome: This rare genetic disorder is characterized by preaxial polydactyly, cutaneous syndactyly, and hypertelorism. It's essential to rule out GCPS when diagnosing SD4.
• Acrocallosal syndrome: This condition involves the fusion of fingers and toes, similar to SD4. However, it's often associated with other abnormalities such as polydactyly and syndactyly of the feet.
• Gorlin syndrome: Also known as nevoid basal cell carcinoma syndrome, this genetic disorder can present with syndactyly, polydactyly, and other skeletal anomalies.
• Carpenter syndrome: This rare genetic disorder is characterized by syndactyly, polydactyly, and other skeletal abnormalities. It's essential to consider Carpenter syndrome when diagnosing SD4.

References:

• [7] Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome.
• [14] Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome.