Syndactyly–Cenani–Lenz type: Difference between revisions

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

Latest revision as of 20:59, 15 December 2024

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]

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]

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]

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]

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]

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]

NIH genetic and rare disease info[edit]

NIH info on Syndactyly–Cenani–Lenz type

Syndactyly–Cenani–Lenz type is a rare disease.

   This article is a  stub. You can help WikiMD by expanding it!

@@ Line 1: / Line 1: @@
-'''Syndactyly–Cenani–Lenz type''' is a rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and abnormalities in the development of the hands and feet. This condition is part of a broader category of disorders known as limb malformations, which affect the growth and development of the limbs during embryonic development. The Syndactyly–Cenani–Lenz type is distinguished by its unique combination of features, including not only the fusion of digits but also the presence of extra digits (polydactyly), malformed or absent bones in the hands and feet, and occasionally, abnormalities in other parts of the body.
+{{Infobox medical condition
+| name = Syndactyly–Cenani–Lenz type
+| image = <!-- No image available -->
+| caption =
+| field = [[Medical genetics]]
+| symptoms = Fusion of fingers and toes, limb malformations
+| onset = Congenital
+| duration = Lifelong
+| causes = Genetic mutation
+| diagnosis = Clinical evaluation, genetic testing
+| treatment = Surgical intervention, supportive care
+| prognosis = Variable
+| frequency = Rare
+}}
-==Causes and Genetics==
+'''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.
-The Syndactyly–Cenani–Lenz type is caused by mutations in specific genes that are crucial for limb development during embryogenesis. These mutations disrupt the normal formation and separation of fingers and toes, leading to the characteristic features of the disorder. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.
-==Symptoms==
+==Presentation==
-The primary symptom of Syndactyly–Cenani–Lenz type is the fusion of fingers and toes, which can vary in severity from partial to complete fusion. The disorder may also involve the presence of extra digits, and in some cases, individuals may have malformed or missing bones in the hands and feet. These malformations can lead to significant functional impairments and may require surgical intervention to improve hand and foot function. In addition to limb abnormalities, some individuals with Syndactyly–Cenani–Lenz type may exhibit other physical anomalies, although these are less common.
+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 typically involves a thorough physical examination and the collection of a detailed family history. Imaging studies, such as X-rays, can be used to assess the extent of bone malformations and digit fusion. Genetic testing may also be conducted to identify mutations in the genes associated with the disorder, confirming the 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.
-==Treatment==
+==Management==
-Treatment for Syndactyly–Cenani–Lenz type is primarily surgical and aims to separate fused digits and correct any bone malformations to improve hand and foot function. The timing and specific procedures depend on the severity of the malformations and the individual's overall health. Physical therapy may also be recommended to enhance mobility and function of the affected limbs.
+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 treatment, most individuals can achieve improved hand and foot function, which significantly enhances their quality of life.
+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]]
+{{Genetic disorders}}
+{{Rare diseases}}
+{{Syndromes}}
+{{Disease-stub}}
 [[Category:Genetic disorders]]
-[[Category:Limb malformations]]
 [[Category:Rare diseases]]
+[[Category:Syndromes]]
-{{disease-stub}}
+[[Category:Congenital disorders]]

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