Congenital Anomalies
What is it?
Some of the congenital anomalies are:
- Prader-Willi syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. People with Prader-Willi syndrome want to eat constantly because they never feel full (hyperphagia), and they usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity.
-Situs inversus is a rare condition in which the chest and abdomen’s organs are positioned in a mirror image from their normal positions. Situs inversus is caused by a genetic condition, an autosomal recessive genetic condition. It is divided into three subtypes:
*Dextrocardia- if the point of the heart is to the right side
*Levocardia- when the heart is on the left side but the other organs are flipped.
*Situs ambiguous- when several organs are in abnormal positions, but not in a well-defined pattern.
-Tuberous sclerosis is a quite rare genetic disorder, causing benign tumors in many body parts. Symptoms may vary, and the disease presentation varies from child to child.
-Marfan syndrome is a genetic condition that affects connective tissue that can be found in the heart, eyes, blood vessels and skeleton. People with Marfan syndrome tend to be tall and thin with long arms and legs. If the condition affects the aorta, which is the biggest blood vessel, carrying the blood from the heart to the rest of the body, it could be life threatening. There may also be heart, eye, and skeletal complications.
-Fragile X syndrome is a genetic disorder, caused by changes in the FMR1 gene. This gene encodes to the FMRP protein, needed for normal brain development. The disorder is characterized by an intellectual disability. The disorder has an X-linked recessive inheritance, typically caused by an expansion of the CGG triplet repeat within the gene on the X chromosome. Normally, there are 4-20 repeats, a permutation is when there are 40-200 repeats, and Fragile X syndrome occurs when there are over 200 repeats. Although it affects both females and males, females usually have milder symptoms.
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Additional names
This group contains additional names:
- Conjoined Twins
Signs & symptoms
-Signs and symptoms that may be present from birth include:
Poor muscle tone: A primary sign during infancy is poor muscle tone (hypotonia). Babies may rest with their elbows and knees loosely extended instead of fixed, and they may feel floppy or like rag dolls when they're held.
Distinct facial features: Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip.
Poor sucking reflex: Infants may have a poor sucking reflex due to decreased muscle tone. Poor sucking makes feeding difficult and can result in failure to thrive.
Generally poor responsiveness: A baby may seem unusually tired, respond poorly to stimulation, have a hard time waking up or have a weak cry.
Underdeveloped genitals: Males may have a small penis and scrotum. The testicles may be small or not descended from the abdomen into the scrotum (cryptorchidism). In females, the clitoris and labia may be small.
Other features of Prader-Willi syndrome appear during early childhood and remain throughout life, requiring careful management. These features may include:
Food craving and weight gain: A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Constant hunger leads to eating often and consuming large portions. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop.
Underdeveloped sex organs
Poor growth and physical development
Cognitive impairment: Mild to moderate intellectual disability
Delayed motor development
Speech problems: Speech is often delayed. Poor articulation of words may be an ongoing problem into adulthood.
Behavioral problems: Children and adults may at times be stubborn, angry, controlling or manipulative. They may throw temper tantrums, especially when denied food, and may not tolerate changes in routine. They may also develop obsessive-compulsive or repetitive behaviors, or both. Other mental health disorders, such as anxiety and skin picking, may develop.
Sleep disorders
Other signs and symptoms: These may include small hands and feet, curvature of the spine (scoliosis), hip problems, reduced saliva flow, nearsightedness and other vision problems, problems regulating body temperature, a high pain tolerance, or a lack of pigment (hypopigmentation) causing hair, eyes and skin to be pale.
-Situs inversus might not present any symptoms at all. It may cause cardiac dysfunction, primary ciliary dyskinesia, bronchitis, and sinusitis.
-Tuberous sclerosis symptoms may include benign tumors in the brain, eyes, kidneys, heart, lung and skin. Other symptoms may include light-colored skin, thickened smooth skin, reddish bumps around or under the nails, seizures, ADHD, autistic spectrum, aggression, self-injury, cough, shortness of breath and white patches on the retina.
-Marfan symptoms vary from patient to patient but may include tall and slender build, disproportionate long arms, legs and finders, abnormal breastbone appearance, a high and arched palate with crowded teeth, heart murmurs, extreme nearsightedness, abnormally curved spine, and flat feet.
-Fragile X syndrome symptoms may include developmental delays, learning disabilities, elongated face, large ears, strabismus, flat feet, larger testes, low muscle tone, recurring sinusitis and otitis media, stereotypical movements, atypical social development, shyness, limited eye contact, memory problems, some may be diagnosed with autism, ADHD and OCD. When growing up, women can have fertility problems.
Diagnosis
-Typically, Prader-Willi syndrome diagnosis is based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in chromosomes that indicate Prader-Willi syndrome.
-Situs inversus is diagnosed by an imaging test such as X-ray, MRI, CT and ultrasonography. Many asymptomatic people don't even know they have it, and may find out accidently on a random medical examination.
-Tuberous sclerosis diagnosis is based upon findings from medical history and physical examination. EEG may be done if there are seizures, imaging tests including MRI, CT- scan and ultrasound may show the tumors, heart evaluation, eye exam and genetic testing are all part of the diagnosis.
-Marfan is not easy to suspect, but when the suspicion arises genetic testing may confirm the diagnosis. Heart tests like an echocardiogram, and CT an MRI imaging scans to show the blood vessels. Eye test including slit-lamp examination and eye pressure test may be needed.
-Diagnosis of fragile X syndrome is done in genetic tests. Prenatal diagnosis is also available.
Treatment
- There's no cure for Prader-Willi syndrome, so treatment aims to manage the symptoms and associated problems. This includes managing the child's excessive appetite and behavioural problems. One of the most important parts of caring for a child with Prader-Willi syndrome is to try to maintain a normal weight. The child should have a healthy, balanced diet, avoiding sweet treats and high-calorie items right from the start. Limiting food intake can be very challenging for families. Children may behave badly to get extra food, and their hunger can make them hide or steal food.
-Usually, there is no need to treat situs inversus. If it causes a heart defect, the symptoms may be treated. Surgery is not recommended.
-There is no treatment for tuberous sclerosis but the symptoms can be treated with anti-seizure medication, arrhythmias medication, everolimus for brain and kidney tumors and sirolimus for skin growths. Surgery may be needed sometimes to remove a symptomatic tumor. Occupational, physical or speech therapy may help the children with special needs, as well as educational services, psychiatric and psychological management.
-There is no cure for Marfan syndrome, but the treatment focus is to prevent complication that may occur. Medications like blood pressure lowering drugs are suggested to prevent the enlargement of the aorta, thus reducing the risk of dissection and rupture. Sometimes, aorta surgery is required to replace a portion of it with a tube. Other surgeries for scoliosis, breastbone correction and eye surgeries are sometimes needed.
-There is no cure for fragile X syndrome, but the focus should be on teaching these kids important skills in physical therapy, speech therapy, behavioral therapy, special education, and psychotherapy. Medications for symptoms-based treatment may be used for ADHD, for example.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
Frequently asked questions
☝ The content of this answer is based solely on historical posts and comments generated by users on Alike. This tool is not a substitute for professional medical advice, and you should always consult with your physicians before making any changes to your medical care or treatment plan.
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