Costello syndrome
Currently, the child is 2 and a half years old and has a congenital ventricular septal defect (regularly monitored by National Taiwan University Hospital).
At 3 months old, he underwent genetic testing at the National Taiwan University Hospital, which suggested a possible diagnosis of Costello syndrome (characterized by dark skin, multiple folds, thick lips, wide-set eyes, and curly hair).
At 1 year and 3 months, he began rehabilitation due to developmental delays.
Additionally, due to feeding difficulties, a gastrostomy was performed.
Is Costello syndrome considered a rare disease? Is it genetic or congenital? What impact does it have on the child's development?
Miss Ye, 20~29 year old female. Ask Date: 2001/01/02
Dr. Shi Zhongxian reply Pediatrics
I spent several days searching through more than ten thick pediatric textbooks, but I could not find this peculiar term, and I sincerely apologize.
Reply Date: 2001/01/02
More Info
Costello syndrome is indeed classified as a rare genetic disorder, primarily caused by mutations in the HRAS gene. This condition is characterized by a variety of physical and developmental features, including distinctive facial characteristics, growth delays, and an increased risk of certain tumors. The symptoms you described in your child, such as dark skin, multiple skin folds, thick lips, wide-set eyes, and curly hair, align with the typical manifestations of Costello syndrome.
To address your questions regarding the nature of Costello syndrome: it is both a genetic and congenital condition. The genetic mutations that lead to this syndrome are inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene from an affected parent can cause the disorder in the child. However, in many cases, the mutation occurs de novo, meaning it arises spontaneously and is not inherited from either parent. This can make it challenging to determine the exact inheritance pattern in some families.
As for the developmental impacts of Costello syndrome, children with this condition often experience a range of challenges. Developmental delays are common, and many children may require early intervention services, such as physical therapy, occupational therapy, and speech therapy, to support their growth and development. The feeding difficulties you mentioned, which led to the placement of a gastrostomy tube (the correct term for "胃造廔"), are also a notable concern in Costello syndrome, as many affected children struggle with feeding and may require specialized nutritional support.
In addition to developmental delays and feeding issues, children with Costello syndrome may face other health complications. These can include cardiac problems, such as the ventricular septal defect (VSD) your child has, as well as an increased risk of certain tumors, particularly during childhood. Regular monitoring and follow-up with a healthcare team familiar with Costello syndrome are essential to manage these risks effectively.
It is also important to consider the psychosocial aspects of raising a child with a rare genetic disorder. Families may face unique challenges, including navigating healthcare systems, accessing appropriate therapies, and managing the emotional and psychological impacts of the diagnosis. Support groups and resources for families affected by Costello syndrome can provide valuable information and community support.
In summary, Costello syndrome is a rare genetic disorder that can significantly impact a child's development and health. Early intervention and a multidisciplinary approach to care are crucial in addressing the various challenges associated with this condition. Regular follow-ups with specialists, including geneticists, cardiologists, and developmental pediatricians, will help ensure that your child receives the best possible care and support as they grow.
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