Syndactyly–Cenani–Lenz type
Syndactyly–Cenani–Lenz type | |
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Synonyms | N/A |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Fusion of fingers and toes, limb malformations |
Complications | N/A |
Onset | Congenital |
Duration | Lifelong |
Types | N/A |
Causes | Genetic mutation |
Risks | N/A |
Diagnosis | Clinical evaluation, genetic testing |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Surgical intervention, supportive care |
Medication | N/A |
Prognosis | Variable |
Frequency | Rare |
Deaths | N/A |
Syndactyly–Cenani–Lenz type is a rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other limb malformations. It is a congenital condition, meaning it is present at birth, and is caused by mutations in specific genes that affect limb development.
Presentation[edit | edit source]
Individuals with Syndactyly–Cenani–Lenz type typically present with:
- Complete or partial fusion of fingers and toes.
- Malformations of the upper and lower limbs, which may include shortened or absent bones.
- In some cases, additional anomalies such as polydactyly (extra fingers or toes) may be present.
The severity of the condition can vary significantly among affected individuals, ranging from mild to severe limb deformities.
Genetics[edit | edit source]
Syndactyly–Cenani–Lenz type is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific genes involved in this condition are responsible for the normal development of limbs during embryogenesis.
Diagnosis[edit | edit source]
Diagnosis of Syndactyly–Cenani–Lenz type is primarily based on clinical evaluation and the characteristic physical findings. Genetic testing can confirm the diagnosis by identifying mutations in the genes associated with the condition.
Management[edit | edit source]
Management of Syndactyly–Cenani–Lenz type involves a multidisciplinary approach, including:
- Surgical intervention to separate fused digits and correct limb deformities, if feasible.
- Physical therapy to improve function and mobility.
- Supportive care to address any additional health issues.
Prognosis[edit | edit source]
The prognosis for individuals with Syndactyly–Cenani–Lenz type varies depending on the severity of the limb malformations and the success of surgical interventions. With appropriate management, many individuals can achieve improved function and quality of life.
Also see[edit | edit source]
NIH genetic and rare disease info[edit source]
Syndactyly–Cenani–Lenz type is a rare disease.
Syndactyly–Cenani–Lenz type Resources | |
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Contributors: Prab R. Tumpati, MD