What’s congenital hearing loss?

Congenital hearing loss has no cure and treatment depends on its cause and severity. Factors such as exposure to rubella, toxic chemicals, and hereditary conditions can contribute to it. Early diagnosis is crucial for early education and therapy. Treatment options include speech therapy, hearing aids, and cochlear implants. Preventive measures can be taken to reduce […]

What’s congenital CMV?

Congenital cytomegalovirus (CMV) is a condition found in newborns infected with the virus in the womb, with the greatest risk occurring when a mother is infected early in pregnancy. Symptoms can vary, with some children asymptomatic and others with severe manifestations. Treatment focuses on relieving symptoms and using intravenous antiviral drugs. CMV is commonly transmitted […]

What’s adult congenital heart disease?

Adult congenital heart disease is a heart or blood vessel defect present since birth, affecting up to 10 in 1,000 babies. Symptoms and severity vary, and diagnosis includes physical exams and diagnostic tests. Treatment depends on the specific defect and its severity, ranging from medication to surgery. Adult congenital heart disease means that an adult […]

What’s congenital melanocytic nevus?

Congenital melanocytic nevus is a birthmark composed of pigmented cells that can appear anywhere on the body. It is usually removed for cosmetic reasons and to reduce the risk of skin cancer. The cause is not clearly understood, and removal can be difficult. A congenital melanocytic nevus is a type of birthmark composed of pigmented […]

What’s Congenital Hypothyroidism?

Congenital hypothyroidism is a treatable condition caused by low levels of thyroid hormone present from birth, often due to genetic or fetal abnormalities. Early diagnosis is important to prevent physical and intellectual disabilities. Treatment involves hormone supplementation for life. Congenital hypothyroidism is a low level of thyroid hormone present from birth and caused by a […]

What’s a glycosylation congenital disorder?

Congenital glycosylation disorder is an inherited condition affecting the way sugar chains attach to proteins, with 19 identified syndromes and varying symptoms. Treatment involves supportive care, and diagnosis is made through blood tests and enzyme activity evaluation. Symptoms range from stunted growth to muscle impairment and vision problems. Congenital glycosylation disorder is an inherited condition […]

What’s a congenital cataract?

Congenital cataracts can cause cloudy vision and may be caused by chromosomal abnormalities, metabolic disorders, or intrauterine infections. Surgery is usually needed to remove them, and an intraocular lens may be implanted. Complications are rare, but underlying causes can affect other organs. A cataract is a condition that usually causes the lens of the eye […]

What’s congenital dysplasia?

Congenital hip dysplasia is a condition where the hip joint is less stable, leading to medical problems. It is more common in women and those of Native American, First Nations, and Lapland ancestry. The cause is unclear, but it may be linked to alterations in the hormone relaxin or genetics. Early detection is important, and […]

What’s congenital syphilis?

Congenital syphilis is a serious disease that can be passed from mother to baby during pregnancy or birth. It can cause stillbirth or death shortly after birth, and can also lead to serious health problems for the baby. Screening and treatment during pregnancy can reduce the risks. Symptoms can be difficult to detect and may […]

What’s Congenital Hypoplasia?

Congenital hypoplasia is a genetic condition where a structure in the body does not fully develop, leading to medical problems. It can be passed on to children, and treatment options include hormone replacement therapy and surgery. Genetic counseling is recommended for parents. Congenital hypoplasia is undergrowth of tissue that leads to medical problems, depending on […]

What’s Leber congenital amaurosis?

Leber congenital amaurosis is a rare genetic disease that affects vision and can cause physical symptoms. There is no proven treatment, but low vision aids and support can help affected children become independent. The disease is caused by mutations in any of more than a dozen genes and is diagnosed through tests. Treatment is based […]

What’s Congenital Rubella Syndrome?

Congenital rubella syndrome (CRS) affects babies in the womb when the mother is infected with rubella. Symptoms include deafness, heart and eye defects, abnormal mental and physical development, and diseases such as diabetes. The MMR vaccine has reduced cases of CRS. Symptoms are caused by the rubella virus harming the fetus during the first trimester […]

What’s congenital insensitivity to pain?

Congenital insensitivity to pain is a rare disorder where people cannot feel pain, which can lead to serious injuries and illnesses. Pain serves as a protective mechanism to prevent harm, and without it, people may not seek medical help and suffer from undetected illnesses. The purpose of pain is to protect us from harming ourselves. […]

What’s congenital hydrocephalus?

Congenital hydrocephalus is a birth defect where the brain is surrounded by too much cerebrospinal fluid, causing pressure and potential damage. Treatment options include a shunt or endoscopic third ventriculostomy, and ongoing care and monitoring is necessary for the child’s life. Only 1% of babies have this condition. Congenital hydrocephalus, commonly referred to as water […]

What’s congenital deafness?

Congenital deafness can be caused by genetic factors, malformations of the ear, maternal drug/alcohol use, infections, or lack of oxygen. Treatment options include cochlear implants and sign language education. Some deaf parents prefer deaf children, but the ethical issue of selecting deaf embryos or refusing treatment is controversial. Congenital deafness is a lack of hearing […]

What’s congenital muscle dystrophy?

Congenital muscular dystrophy is a genetic disorder that causes muscles to waste away, leading to weakness and coordination problems. It is caused by a mutation in one of the body’s muscle proteins and is diagnosed through muscle tissue biopsy. Symptoms appear before the child is two years old and include weak muscles, difficulty swallowing and […]

What’s congenital arthrogryposis multiplex?

Arthrogryposis multiplex congenital affects fetal joint development, causing physical deformities and limited mobility. Causes include genetic mutations, traumatic injury, drug exposure, or abnormal uterus. Treatment includes surgery and physical therapy, and severity varies. Early detection is possible through ultrasound, and treatment is tailored to each patient’s needs. Arthrogryposis multiplex congenital is a disease that affects […]

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