Cenani-Lenz syndactyly syndrome

Cenani-Lenz Syndactyly Syndrome: A Rare Congenital Disorder

Cenani-Lenz syndactyly syndrome, also known as Cenani-Lenz syndrome or Cenani-syndactylism, is a rare autosomal recessive congenital malformation syndrome involving anomalies of distal limb development [6]. This condition is characterized by the fusion and disorganization of fingers and toes, resulting in complex syndactyly of the hands with malformations of the forearm bones [1][5].

Key Features:

• Complex syndactyly of the hands
• Malformations of the forearm bones
• Fusion and disorganization of fingers and toes
• Oligodactylous variant, where some digits are missing or underdeveloped [7]

Inheritance Pattern: Cenani-Lenz syndactyly syndrome is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition [4][8].

References:

[1] Cenani-Lenz syndrome is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and ...

[5] Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones ...

[6] Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism, is an autosomal recessive congenital malformation syndrome involving anomalies of distal limb development...

[7] An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented.

[8] Cenani-Lenz syndactyly syndrome is an autosomal recessive disorder characterized by anomalies of distal limb development, including fusion and disorganization...

Characteristics of Cenani-Lenz Syndactyly Syndrome

Cenani-Lenz syndactyly syndrome is a rare congenital malformation syndrome that affects the hands, face, and other parts of the body. The following features are commonly associated with this condition:

• Complex syndactyly: A complex fusion of fingers or toes, often involving the carpal, metacarpal, and phalanges bones in the hand [1].
• Facial dysmorphism: Mild facial abnormalities, including a high, wide, prominent forehead, hypertelorism (increased distance between the eyes), downslanting palpebral fissures (eyelid openings), short nose with depressed nasal bridge, and short but broad hands [5][6].
• Kidney anomalies: Over half of patients exhibit kidney abnormalities, including renal agenesis (absence of one or both kidneys) and hypoplasia (underdeveloped kidneys) [7].

Additional Features

Other features that may be present in individuals with Cenani-Lenz syndactyly syndrome include:

• Oligodactyly: A rare variant of the condition, characterized by a reduced number of fingers or toes.
• Radioulnar synostosis: A fusion of the radius and ulna bones in the forearm [9].
• Skeletal abnormalities: Other skeletal anomalies may be present, including those affecting the spine, ribs, and other bones.

References

[1] Cenani-Lenz syndactyly syndrome: a rare congenital malformation syndrome. (Source: #2) [5] Facial features of Cenani-Lenz syndactyly syndrome. (Source: #5) [6] Mild facial dysmorphism in Cenani-Lenz syndactyly syndrome. (Source: #5) [7] Kidney anomalies in Cenani-Lenz syndactyly syndrome. (Source: #7) [9] Radioulnar synostosis in Cenani-Lenz syndactyly syndrome. (Source: #9)

Diagnostic Tests for Cenani-Lenz Syndactyly Syndrome

Cenani-Lenz syndactyly syndrome is a rare autosomal recessive disorder characterized by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients.

Diagnostic Approaches

The diagnosis of Cenani-Lenz syndactyly syndrome can be made based on clinical and radiological features, as well as genetic testing [4][8]. The following diagnostic tests may be used to confirm the diagnosis:

• Clinical Molecular Genetics test: This test uses sequence analysis of the entire coding region, Next-Generation Sequencing (NGS), or other advanced techniques to identify pathogenic variants in the responsible gene(s) [4][8].
• Genetic testing: Genetic testing can confirm the diagnosis by identifying the specific genetic mutations associated with Cenani-Lenz syndactyly syndrome. This may involve sequencing of the entire coding region, NGS, or other advanced techniques.
• Radiological studies: Radiological studies such as X-rays and CT scans can help identify the characteristic limb anomalies and skeletal abnormalities associated with Cenani-Lenz syndactyly syndrome.

Clinical Trials

Clinical trials are also available to determine if new tests or treatments for Cenani-Lenz syndactyly syndrome are effective and safe [11]. These trials compare groups receiving different tests/treatments, which can help improve diagnosis and treatment options for patients with this condition.

References:

[4] Clinical Molecular Genetics test for Cenani-Lenz syndactyly syndrome and using Sequence analysis of the entire coding region. [8] Genetic testing can confirm the diagnosis by identifying the specific genetic mutations associated with Cenani-Lenz syndactyly syndrome. [11] Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.

Current Understanding of Drug Treatment for Cenani-Lenz Syndactyly Syndrome

Cenani-Lenz syndactyly syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes. While there is limited information available on the drug treatment of this condition, it is essential to understand that Cenani-Lenz syndactyly syndrome is primarily a genetic disorder.

• No specific drug treatment: There is no established drug treatment for Cenani-Lenz syndactyly syndrome. The primary approach to managing this condition involves surgical reconstruction and rehabilitation (1).
• Surgical intervention: Surgical treatment with reconstruction of an individualized finger is recommended, but the functional results of syndactyly release may be unsatisfactory (1).

Other Relevant Information

While there are no specific drugs mentioned in the context for treating Cenani-Lenz syndactyly syndrome, it's essential to note that:

• Genetic testing: Genetic tests from US labs and other international laboratories can help confirm the diagnosis of Cenani-Lenz syndactyly syndrome (2).
• Orphanet summary: Orphanet provides a comprehensive summary of this condition, including information on diagnosis, care, and treatment. However, it does not specifically mention drug treatment (5).

References

(1) Context result 1: Surgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory. (2) Context result 2: Clinical resource with information about Cenani-Lenz syndactyly syndrome and its clinical features, LRP4, available genetic tests from US and labs around ... (5) Context result 5: Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources.

Differential Diagnosis of Cenani-Lenz Syndactyly Syndrome

Cenani-Lenz syndactyly syndrome (CLSS) is a rare autosomal recessive disorder characterized by severe limb malformations, including fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. When diagnosing CLSS, it is essential to consider other conditions that may present with similar symptoms.

Conditions in the Differential Diagnosis

• Diamond-Blackfan anemia: A rare genetic disorder characterized by a decrease in red blood cells, which can lead to anemia.
• Thrombocytopenia-absent radius syndrome (TAR): A rare congenital disorder characterized by the absence or underdevelopment of one or both radii bones and low platelet count.

Key Features for Differential Diagnosis

To differentiate CLSS from other conditions, consider the following key features:

• Severity of limb malformations: CLSS is characterized by severe syndactyly and fusion of metacarpal and phalangeal bones.
• Facial dysmorphism: Mild facial dysmorphism is present in most patients with CLSS.
• Renal anomalies: Some cases of CLSS may be associated with renal anomalies.

Important Considerations

When diagnosing CLSS, it is crucial to consider the genetic inheritance pattern and the presence of other congenital malformations. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, orthopedic surgeons, and radiologists, is essential for accurate diagnosis and management.

References

• [1] Cenani-Lenz syndactyly syndrome: LRP4 (homozygous/compound heterozygous) Renal anomalies, limb anomalies: ... Important conditions in the differential diagnosis include both Diamond-Blackfan anemia and Thrombocytopenia-absent radius syndrome [Greenhalgh et al., 2002; Griesinger et al., ...
• [14] Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal recessive disorder characterized mainly by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients.

Note: The references provided are based on the information within the search results and may not be an exhaustive list of all relevant studies or publications on this topic.