Elejalde Syndrome: Symptoms, Causes

Elejalde syndrome, also known as Elejalde disease, is a rare genetic disorder that affects how the body processes certain substances. This condition is caused by mutations in specific genes that play a role in metabolic pathways. These genetic changes can disrupt normal cellular functions, leading to the characteristic features of Elejalde syndrome. While the exact mechanisms underlying the disease are still being studied, researchers believe that these mutations result in the accumulation of toxic substances in the body, causing a range of symptoms. Patients with Elejalde syndrome may experience various health issues due to the metabolic disruptions caused by the genetic mutations. Understanding the genetic basis of this condition is crucial for developing targeted therapies and interventions to help manage the symptoms and improve the quality of life for individuals affected by

What Are the Symptoms of Elejalde Syndrome

Elejalde syndrome is a rare genetic disorder characterized by a range of symptoms. Patients may experience intellectual disability, delayed development, distinctive facial features such as a wide mouth and a broad nose, and abnormalities in the fingers and toes. Additionally, individuals with Elejalde syndrome may have vision and hearing problems, seizures, and heart defects. The severity of symptoms can vary among affected individuals, making it important for healthcare providers to conduct a thorough evaluation for an accurate diagnosis and appropriate management.

Elejalde syndrome symptoms may include intellectual disability and developmental delays.
Individuals with Elejalde syndrome may exhibit distinctive facial features such as a broad forehead and deep-set eyes.
Some people with Elejalde syndrome may experience seizures or epilepsy.
Short stature and skeletal abnormalities are common characteristics of Elejalde syndrome.
Behavioural issues, such as hyperactivity or aggression, can be present in individuals with Elejalde syndrome.

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Causes of Elejalde Syndrome

Elejalde syndrome, also known as acrorenal mandibular syndrome, is a rare genetic disorder with multiple potential causes. It is primarily linked to mutations in the EVC and EVC2 genes, which play a crucial role in embryonic development and skeletal formation. These genetic mutations disrupt normal growth and development processes, leading to the characteristic features of the syndrome, such as limb abnormalities, kidney defects, and facial anomalies. While the exact mechanisms by which these mutations result in the diverse symptoms of Elejalde syndrome are not fully understood, ongoing research aims to uncover more about the underlying pathophysiology of this complex condition.

Elejalde syndrome can be caused by genetic mutations affecting the X-linked gene, ATP6AP2, leading to abnormal kidney development.
In some cases, Elejalde syndrome is associated with chromosomal abnormalities, such as deletions or duplications involving specific genetic regions.
Environmental factors, such as exposure to toxins or radiation during fetal development, may contribute to the development of Elejalde syndrome.
Maternal health conditions, including certain infections or metabolic disorders during pregnancy, can increase the risk of Elejalde syndrome in offspring.
Rarely, Elejalde syndrome may be linked to epigenetic changes that alter gene expression patterns, impacting kidney and skeletal development.

Types Of Elejalde Syndrome

Elejalde syndrome, also known as Elejalde disease, encompasses several distinct types, each characterized by specific features. Type I, the most common form, presents with facial dysmorphism, intellectual disability, and skeletal anomalies. Type II is associated with growth retardation, intellectual disability, and distinctive facial features.

Type III is characterized by intellectual disability, short stature, and facial dysmorphism. Type IV is a more severe variant with profound developmental delay, growth retardation, and distinct facial features. Each type of Elejalde syndrome has unique clinical manifestations, aiding in accurate diagnosis and management of affected individuals.

Risk Factors

Elejalde syndrome, also known as multiple pterygium syndrome, is a rare genetic disorder with various risk factors. The condition is primarily caused by mutations in specific genes, such as CHRNG, CHRND, or CHRNE. These genetic mutations can be inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene. Additionally, advanced paternal age has been associated with an increased risk of Elejalde syndrome. While the exact prevalence and specific environmental risk factors are not well-established, early genetic counseling and testing are crucial for families with a history of the condition.

Genetic mutations or alterations in the KIAA1109 gene are a significant risk factor for Elejalde syndrome.
Consanguinity or close blood relationships between parents increase the likelihood of a child developing Elejalde syndrome.
Family history of Elejalde syndrome raises the risk for subsequent generations within the same lineage.
Environmental factors, such as exposure to certain toxins or chemicals, may contribute to the development of Elejalde syndrome.
Advanced parental age, particularly in both mother and father, can elevate the risk of a child being born with Elejalde syndrome.

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Diagnosis of Elejalde Syndrome

This is often followed by genetic testing to identify mutations in the IARS2 gene, which is associated with the condition. Imaging studies such as MRI or CT scans may also be conducted to evaluate any structural abnormalities in the brain. Additionally, blood tests and metabolic screenings can help rule out other potential causes of the symptoms. A multidisciplinary team of specialists, including geneticists, neurologists, and pediatricians, may collaborate to reach a conclusive diagnosis.

Elejalde syndrome is diagnosed through physical examination, genetic testing, imaging studies, and evaluation of symptoms.
Genetic testing helps identify mutations in the SLC39A13 gene associated with Elejalde syndrome.
Imaging studies such as X-rays or MRIs can reveal skeletal abnormalities characteristic of Elejalde syndrome.
Evaluation of symptoms like growth retardation, skeletal deformities, and developmental delays aids in diagnosing Elejalde syndrome.

Treatment for Elejalde Syndrome

Treatment for Elejalde syndrome is typically focused on managing symptoms to improve the individual's quality of life. This may involve a multidisciplinary approach that includes regular monitoring by healthcare providers, physical therapy to address musculoskeletal issues, surgical interventions for specific complications, and supportive care to address developmental delays or intellectual disabilities that may be present. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance pattern of the condition and make informed decisions about family planning. While there is no cure for Elejalde syndrome, a comprehensive treatment plan tailored to the individual's needs can help optimize their health and

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