Understanding Costello Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Prevention
Causes
As a result of mutations in the HRAS gene, which controls cell growth and division, Costello syndrome is a rare genetic disorder. Due to these mutations, cell signaling pathways are abnormally activated, resulting in Costello syndrome's characteristic characteristics. There are rare cases of inheritance of Costello syndrome, but most cases occur sporadically with no family history.
Symptoms
A distinctive pattern of signs and symptoms characterizes Costello syndrome, including:
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Children with Costello syndrome often experience growth delays before and after birth, resulting in short stature and small heads (microcephaly).
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The Costello syndrome is associated with cognitive impairment ranging from mild to moderate.
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Often, people with Costello syndrome have distinctive facial features, such as a broad forehead, low-set ears, a wide nasal bridge, and full lips.
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Individuals with Costello syndrome may have loose, redundant, and wrinkled skin, particularly on their hands and feet.
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Individuals with Costello syndrome may have heart abnormalities such as hypertrophic cardiomyopathy (enlargement of the heart muscle) and structural heart abnormalities.
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The patient may have joint hypermobility, tight Achilles tendons (heel cords), and skeletal abnormalities such as scoliosis (curvature of the spine).
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Costello syndrome is associated with gastroesophageal reflux disease (GERD), feeding difficulties, and constipation.
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There is an increased risk of cancer in individuals with Costello syndrome, including rhabdomyosarcoma (a type of soft tissue cancer) and neuroblastoma (a type of nerve cancer).
Diagnosis
An evaluation of a patient's symptoms, genetic testing, and imaging tests are usually used to diagnose Costello syndrome. In addition to characteristic physical features, Costello syndrome can also be characterized by developmental delays, intellectual disabilities, and cardiac abnormalities. Despite the fact that not all individuals with Costello syndrome will have identifiable mutations in the HRAS gene, genetic testing can confirm the presence of mutations.
Treatment
As part of Costello syndrome treatment, symptoms are managed and associated health issues are addressed. Treatment options may include:
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Services such as physical therapy, occupational therapy, speech therapy, and educational support can help address developmental delays and promote optimal growth.
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Monitoring your heart function, including echocardiograms and electrocardiograms (EKGs), is recommended to detect cardiac abnormalities and complications.
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Costello syndrome may require surgical intervention to address congenital heart defects, musculoskeletal abnormalities, or other health issues.
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Individuals with Costello syndrome require multidisciplinary care, including pediatricians, cardiologists, geneticists, and other specialists.
Prevention
The development of Costello syndrome cannot be prevented since the mutation in the HRAS gene causes it. Individuals with a family history of Costello syndrome or known HRAS gene mutations may benefit from genetic counseling. Families who are at risk of having a child with Costello syndrome may also be offered prenatal testing.
Costello syndrome is a rare genetic disorder that causes developmental delays, distinctive facial features, cardiac abnormalities, and other health problems. Costello syndrome patients can benefit from early diagnosis, multidisciplinary care, and supportive interventions. For evaluation and management of Costello syndrome, it is important to consult a healthcare professional if you or your child is suspect.
