Birth defectA birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders.
Schizoaffective disorderSchizoaffective disorder (SZA, SZD) is a mental disorder characterized by abnormal thought processes and an unstable mood. This diagnosis requires symptoms of both schizophrenia (usually psychosis) and a mood disorder: either bipolar disorder or depression. The main criterion is the presence of psychotic symptoms for at least two weeks without any mood symptoms. Schizoaffective disorder can often be misdiagnosed when the correct diagnosis may be psychotic depression, bipolar I disorder, schizophreniform disorder, or schizophrenia.
PolydactylyPolydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). As of 1977, the incidence of congenital deformities in newborns was approximately 2%, and 10% of these deformities involve the upper extremity. In 1961, Frantz and O’Rahilly proposed, that congenital anomalies of the limb could be classified in seven categories, based on the embryonic failure causing the clinical presentation.
Obsessive–compulsive disorderObsessive–compulsive disorder (OCD) is a mental and behavioral disorder in which an individual has intrusive thoughts (an obsession) and feels the need to perform certain routines (compulsions) repeatedly to relieve the distress caused by the obsession, to the extent where it impairs general function. Obsessions are persistent unwanted thoughts, mental images, or urges that generate feelings of anxiety, disgust, or discomfort.
Autism spectrumAutism, formally called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder characterized by deficits in social communication and social interaction, and repetitive or restricted patterns of behaviors, interests, or activities, which can include hyper- and hyporeactivity to sensory input. Autism is a spectrum disorder, meaning that it can manifest very differently in each person. For example, some are nonspeaking, while others have proficient spoken language.
Signs and symptomsSigns and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. Signs are objective and externally observable; symptoms are a person's reported subjective experiences. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pains in the body.
DeliriumDelirium (formerly acute confusional state, an ambiguous term that is now discouraged) is a specific state of acute confusion attributable to the direct physiological consequence of a medical condition, effects of a psychoactive substance, or multiple causes, which usually develops over the course of hours to days. As a syndrome, delirium presents with disturbances in attention, awareness, and higher-order cognition. People with delirium may experience other neuropsychiatric disturbances, including changes in psychomotor activity (e.
Intellectual disabilityIntellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living.
ComorbidityIn medicine, comorbidity - from Latin morbus ("sickness"), co ("together"), -ity (as if - several sicknesses together) - is the presence of one or more additional conditions often co-occurring (that is, concomitant or concurrent) with a primary condition. Comorbidity describes the effect of all other conditions an individual patient might have other than the primary condition of interest, and can be physiological or psychological.
Differential diagnosisIn healthcare, a differential diagnosis (DDx) is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each individual option of a possible disease is called a differential diagnosis (e.
Dementia praecoxDementia praecox (meaning a "premature dementia" or "precocious madness") is a disused psychiatric diagnosis that originally designated a chronic, deteriorating psychotic disorder characterized by rapid cognitive disintegration, usually beginning in the late teens or early adulthood. Over the years, the term dementia praecox was gradually replaced by the term schizophrenia, which initially had a meaning that included what is today considered the autism spectrum. The term dementia praecox was first used by German psychiatrist Heinrich Schüle in 1880.
CatatoniaCatatonia is a complex neuropsychiatric behavioral syndrome that is characterized by abnormal movements, immobility, abnormal behaviors, and withdrawal. The onset of catatonia can be acute or subtle and symptoms can wax, wane, or change during episodes. It has historically been related to schizophrenia (catatonic schizophrenia), but catatonia is most often seen in mood disorders. It is now known that catatonic symptoms are nonspecific and may be observed in other mental, neurological, and medical conditions.
ProdromeIn medicine, a prodrome is an early sign or symptom (or set of signs and symptoms) that often indicates the onset of a disease before more diagnostically specific signs and symptoms develop. It is derived from the Greek word prodromos, meaning "running before". Prodromes may be non-specific symptoms or, in a few instances, may clearly indicate a particular disease, such as the prodromal migraine aura. For example, fever, malaise, headache and lack of appetite frequently occur in the prodrome of many infective disorders.
Personality disorderPersonality disorders (PD) are a class of mental disorders characterized by enduring maladaptive patterns of behavior, cognition, and inner experience, exhibited across many contexts and deviating from those accepted by the individual's culture. These patterns develop early, are inflexible, and are associated with significant distress or disability. The definitions vary by source and remain a matter of controversy.
Medical geneticsMedical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Congenital heart defectA congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired.
Neurodevelopmental disorderNeurodevelopmental disorders are a group of neurological disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental disorders tend to last for a person's lifetime. Neurodevelopmental disorders are impairments of the growth and development of the brain and/or central nervous system.
EncephalopathyEncephalopathy (ɛnˌsɛfəˈlɒpəθi; from ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes. The hallmark of encephalopathy is an altered mental state or delirium. Characteristic of the altered mental state is impairment of the cognition, attention, orientation, sleep–wake cycle and consciousness.
Angelman syndromeAngelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age.
Cotard's syndromeCotard's syndrome, also known as Cotard's delusion or walking corpse syndrome, is a rare mental disorder in which the affected person holds the delusional belief that they are dead, do not exist, are putrefying, or have lost their blood or internal organs. Statistical analysis of a hundred-patient cohort indicated that denial of self-existence is present in 45% of the cases of Cotard's syndrome; the other 55% of the patients presented with delusions of immortality.
