Journal of Congenital Disorders
Open Access

Angelman Syndrome

Angelman Syndrome is a genetic disorder in which a gene on chromosome 15 is missing or unexpressed. Children with Angelman Syndrome typically have developmental delays that are frequently evident between 6-12 months of age Diagnosis can be established through genetic and DNA testing as early as the first year of life. In affected children, language comprehension and non-verbal skills are usually more developed than spoken language and the affected child may have few if any words. Children with Angelman Syndrome have difficulties with movement and balance. Their behavior may combine frequent laughter and smiling, an easily excitable personality, hand flapping movements, hyperactive behavior, and a short attention span. Associated physical features and concerns, such as seizures, movement problems, hypopigmentation, sleep and feeding problems, are present in about 20-80% of children who have this disorder. Many educational and behavioral interventions have been shown to be effective in addition to physical and occupational therapies, speech and language interventions, behavior modification, and parent training.

Traumatic Brain Injury

Traumatic Brain Injury (TBI) is a disability category that occurs as the result of an injury to the brain as a result of an accident, insufficient oxygen, poisoning or infection at any time during an individual’s life. It does not include congenital or degenerative brain injuries or brain injuries caused by birth trauma. Traumatic brain injuries may result in impairment in cognition, language, social skills, memory, attention, reasoning, behavior, physical functioning, psychological functioning, information processing, or speech. Physical challenges can include ambulation, balance, coordination, fine motor skills, strength, and endurance. Medical and neurology specialists determine a diagnosis using behavioral and neuropsychological assessments. In addition to rehabilitation services, individuals with TBI are treated with many of the services and supports as individuals with developmental disabilities. Outcomes vary by level of injury, with the goal for many being to return to school or to work, but with new and different levels of support.

Schizophrenia

Schizophrenia is a serious disorder which affects how a person thinks, feels and acts. It is a complex, long-term medical illness, about one in a hundred people will develop schizophrenia. Although schizophrenia can occur at any age, the average age of onset tends to be in the late teens to the early 20s for men, and the late 20s to early 30s for women. It is uncommon for schizophrenia to be diagnosed in a person younger than 12 or older than 40. The early stage is called ‘the prodromal phase’. During this phase your sleep, emotions, motivation, communication and ability to think clearly may change. If you become unwell this is called an ‘acute episode’. You may feel panic, anger or depression during an acute episode. Your first acute episode can be a shocking experience because you are not expecting it or prepared for it.

Phenylketonuria

Phenylketonuria (PKU) is a is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, the body is unable to break down phenylalanine. This causes a buildup of phenylalanine in the body. Early diagnosis and treatment can help relieve symptoms of PKU and prevent brain damage. Only 1 in 10,000 to 15,000 newborns affecting each year with Phenylketonurina. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet

Club foot

Club foot is also called Congenital Talipes Equinovarus (CTEV), it is a congenital deformity involving one foot or both. Club Foot is a relatively common birth defect, occurring in about one in every 1,000 live births. Approximately half of people with clubfoot have it affect both feet, which is called bilateral club foot. In most cases it is an isolated disorder of the limbs. It occurs in males twice as frequently as in females. The affected foot appears to have been rotated internally at the ankle. Without treatment, people with club feet often appear to walk on their ankles or on the sides of their feet. Although clubfoot is painless in a baby, treatment should begin immediately. Clubfoot can cause significant problems as the child grows. But with early treatment most children born with clubfoot are able to lead a normal life.

Cleft lip and cleft palate

Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP). A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate is when the roof of the mouth contains an opening into the nose.These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother and certain medications Cleft lip and palate occurs in about 1 to 2 per 1000 births in the developed world. CL is about twice as common in males as females, while CP without CL is more common in females.

Journal of Congenital disorders is best Open Access, online, medical journal. Journal of Congenital disorders is a peer reviewed medical journal that includes a wide range of topics in this field and creates a platform for the authors to make their contribution towards the journal.

The Journal seeks high-quality submissions and welcome contributions in Anencephaly, Anophthalmia, Microphthalmia, Anotia, Microtia, Cleft Lip, Cleft Palate, Craniosynostosis, Down Syndrome, Data and Statistics, Growth Charts, Encephalocele. Journal of Congenital disorders is an Open Access scholarly journal and aims to publish most complete and reliable source of information. This scholarly publishing is using Editorial Manager System for quality in the review process.

Editorial Manager is an online manuscript submission, review and that tracks the review status. Review process is performed by the editorial board members of Journal of Congenital disorders or outside experts; at least two independent reviewer’s approval followed by the editor is required for the acceptance of any citable manuscript.

Myelomeningocele

A myelomeningocele is a type of birth defect called a neural tube defect. It occurs when the bones of the spine (vertebrae) don't form properly around part of the baby's spinal cord. Spina Bifida can be mild or severe. Normally, the neural tube forms early in the pregnancy and closes by the 28th day after conception.

In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine. The mild form is the most common. It usually doesn't cause problems or need treatment. A rare and more severe form is meningocele. In this case fluid leaks out of the spine and pushes against the skin. You may see a bulge in the skin. In many cases, there are no other symptoms. The treatment for spina bifida is necessary, it's done surgically, although such treatment doesn't always completely resolve the problem.

Prader Willi syndrome

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).

People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).

Cerebral palssy

Cerebral palsy is a disorder caused by damage to the brain that occurs before, during, or shortly following birth. It affects body movement and muscle coordination. Individuals with cerebral palsy may also experience seizures, abnormal speech, hearing and visual impairments, and mental retardation. Children with cerebral palsy may not be able to walk, talk, eat, or play in the same ways as most other children. Cerebral palsy can include milder versions or more severe symptoms which lead to total dependency. Although cerebral palsy is a lifelong condition, training and therapy can help improve function.

Congenital Heart Disease

Congenital Heart Disease (CHD) is the most common congenital disorder in new-borns. Approximately 1 in every 100 new-borns have congenital heart defects, which can range from mild too severe. Critical CHD requires surgery or catheter-based intervention in the first year of life, this occurs in approximately 25 percent. Although many new-borns with critical CHD are symptomatic and identified soon after birth, others are not diagnosed until after discharge from the birth hospitalization.In infants with critical cardiac lesions, the risk of morbidity and mortality increases when there is a delay in diagnosis and timely referral to a tertiary centre with expertise in treating these patients. Some are known to be associated with genetic disorders, such as Down syndrome, but the cause of most congenital heart defects is unknown. While they can't be prevented, there are many treatments for the disease and related health problems.

Traumatic Brain Injury

Traumatic Brain Injury (TBI) is a disability category that occurs as the result of an injury to the brain as a result of an accident, insufficient oxygen, poisoning or infection at any time during an individual’s life. It does not include congenital or degenerative brain injuries or brain injuries caused by birth trauma. Traumatic brain injuries may result in impairment in cognition, language, social skills, memory, attention, reasoning, behavior, physical functioning, psychological functioning, information processing, or speech. Physical challenges can include ambulation, balance, coordination, fine motor skills, strength, and endurance. Medical and neurology specialists determine a diagnosis using behavioral and neuropsychological assessments. In addition to rehabilitation services, individuals with TBI are treated with many of the services and supports as individuals with developmental disabilities. Outcomes vary by level of injury, with the goal for many being to return to school or to work, but with new and different levels of support.

Cleft Lip and Cleft Palate

Cleft Lip and Cleft palate, also known as orofacial cleft. A group of conditions that includes Cleft Lip (CL), Cleft Palate (CP), and both together (CLP). Cleft Lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate is when the roof of the mouth contains an opening into the nose.These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. The cause is unknown in most cases.Risk factors include smoking during pregnancy, diabetes, obesity, an older mother and certain medications Cleft lip and palate occurs in about 1 to 2 per 1000 births in the developed world. CL is about twice as common in males as females, while CP without CL is more common in females.

Down Syndrom

Down Syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21 which occurs in fetus formation, more specifically in the cell division period. It constitutes a chromosomal abnormality characterised by a series of signs and symptoms. The extra chromosome causes the problems to body and brain the physical features and medical problems associated with Down Syndrome can vary widely from child to child. While some kids with Down Syndrome need a lot of medical attention, others lead healthy lives. Though Down syndrome can't be prevented, it can be detected before a child is born. The health problems that may go along with DS can be treated

Hirschsprung's Diseas

Hirschsprung (HERSH-sproong) disease affects the large intestine (colon) of newborns, babies, and toddlers. The condition in which prevents bowel movements (stool) to pass through the intestines due to missing nerve cells in the lower part of the colon is caused by a birth defect. Most of the time, the problems with pooping start at birth, although in milder cases symptoms may appear months or years later. Hirschsprung disease can cause constipation, diarrhea and vomiting and sometimes lead to serious colon complications, like enterocolitis and toxic megacolon, which can be life-threatening. So, it's important that Hirschsprung disease be diagnosed and treated as early as possible.

Club Foot

Club Foot is also called Congenital Talipes Equinovarus (CTEV), it is a congenital deformity involving one foot or both. Club Foot is a relatively common birth defect, occurring in about one in every 1,000 live births. Approximately half of people with clubfoot have it affect both feet, which is called bilateral club foot. In most cases it is an isolated disorder of the limbs. It occurs in males twice as frequently as in females. The affected foot appears to have been rotated internally at the ankle. Without treatment, people with club feet often appear to walk on their ankles or on the sides of their feet. Although clubfoot is painless to a baby, but treatment should begin immediately. Clubfoot can cause significant problems as the child grows. But with early treatment most children born with clubfoot are able to lead a normal life.

Schizophrenia

Schizophrenia is a serious disorder which affects how a person thinks, feels and acts. It is a complex, long-term medical illness, about one in a hundred people will develop schizophrenia. Although schizophrenia can occur at any age, the average age of onset tends to be in the late teens to the early 20s for men, and the late 20s to early 30s for women. It is uncommon for schizophrenia to be diagnosed in a person younger than 12 or older than 40. The early stage is called ‘the prodromal phase’. During this phase your sleep, emotions, motivation, communication and ability to think clearly may change. If you become unwell this is called an ‘acute episode’. You may feel panic, anger or depression during an acute episode. Your first acute episode can be a shocking experience because you are not expecting it or prepared for it.

Angelman Syndrom

Angelman Syndrome is a genetic disorder in which a gene on chromosome 15 is missing or unexpressed. Children with Angelman Syndrome typically have developmental delays that are frequently evident between 6-12 months of age Diagnosis can be established through genetic and DNA testing as early as the first year of life. In affected children, language comprehension and non-verbal skills are usually more developed than spoken language and the affected child may have few if any words. Children with Angelman Syndrome have difficulties with movement and balance. Their behavior may combine frequent laughter and smiling, an easily excitable personality, hand flapping movements, hyperactive behavior, and a short attention span. Associated physical features and concerns, such as seizures, movement problems, hypopigmentation, sleep and feeding problems, are present in about 20-80% of children who have this disorder. Many educational and behavioral interventions have been shown to be effective in addition to physical and occupational therapies, speech and language interventions, behavior modification, and parent training.

Edwards Syndrome

Edwards Syndrome is also known as Trisomy 18. Edwards Syndrome is a condition which is caused by an error in cell division, known as meiotic disjunction. When this happens, instead of the normal pair, an extra chromosome 18 results (a triple) in the developing baby and disrupts the normal pattern of development in significant ways that can be life-threatening, even before birth. A Trisomy 18 error occurs in about 1 out of every 2500 pregnancies and 1 in 6000 live births. The numbers of total births are much higher because it includes significant numbers of still births that occur in the 2nd and 3rd trimesters of pregnancy. Unlike Down syndrome, which also is caused by an extra chromosome, the developmental issues caused by Trisomy 18 are associated with more medical complications that are more potentially life-threatening in the early months and years of life. Babies who are carried to term will be born alive, and baby girls will have higher rates of live birth than baby boys.

Phenylketonuria

Phenylketonuria (PKU) is a is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, the body is unable to break down phenylalanine. This causes a buildup of phenylalanine in the body. Early diagnosis and treatment can help relieve symptoms of PKU and prevent brain damage. Only 1 in 10,000 to 15,000 newborns affecting each year with Phenylketonurina. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet