Syndactyly–Cenani–Lenz type

Syndactyly–Cenani–Lenz type
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

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

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

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

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

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

• Syndactyly
• Polydactyly
• Genetic disorders
• Congenital limb deformities

NIH genetic and rare disease info

• NIH info on Syndactyly–Cenani–Lenz type

Syndactyly–Cenani–Lenz type is a rare disease.

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