The following Conditions are related to P

Select a specific condition below to view its details.

  • 1p36 deletion syndrome

    1p36 deletion syndrome facts Introduction to the 1p36 deletion syndrome – how individuals get chromosomes with missing DNA 1p36 deletion syndrome stands for the following: 1 is the chromosome number that has deleted DNA, p is the short arm of the chromosome (shortest length of DNA above the centromere) that contains designated area 36 that is missing DNA DNA missing from area 1p36 is responsible for the  Read More

  • Agoraphobia

    Typical agoraphobia symptoms include fear of: Leaving home alone Crowds or waiting in line Enclosed spaces, such as movie theaters, elevators or small stores Open spaces, such as parking lots, bridges or malls Using public transportation, such as a bus, plane or train These situations cause anxiety because you fear you won't be able to escape or find help if you start to fe  Read More

  • Attention deficit hyperactivity disorder (adhd) in adults

    Many adults with ADHD aren't aware they have it — they just know that everyday tasks can be a challenge. Adults with ADHD may find it difficult to focus and prioritize, leading to missed deadlines and forgotten meetings or social plans. The inability to control impulses can range from impatience waiting in line or driving in traffic to mood swings and outbursts of anger. Adult ADHD symptoms may include: Impulsivene  Read More

  • Attention deficit hyperactivity disorder (adhd) in teens

    Attention deficit hyperactivity disorder (ADHD) is one of the most common chronic disorders affecting school-age children. Current research indicates prevalence rates of 3% to 5% with males being diagnosed with this disorder two and a half times more often than females. ADHD is described as "a common neurobiologic disorder characterized by developmentally inappropriate levels of inattention, hyperactivity, and impulsivity." A more academic des  Read More

  • Autism

    Some children show signs of autism spectrum disorder in early infancy, such as reduced eye contact, lack of response to their name or indifference to caregivers. Other children may develop normally for the first few months or years of life, but then suddenly become withdrawn or aggressive or lose language skills they've already acquired. Signs usually are seen by age 2 years. Each child with autism spectrum disorder is likely to have a  Read More

  • Autism spectrum disorder

    Some children show signs of autism spectrum disorder in early infancy, such as reduced eye contact, lack of response to their name or indifference to caregivers. Other children may develop normally for the first few months or years of life, but then suddenly become withdrawn or aggressive or lose language skills they've already acquired. Signs usually are seen by age 2 years. Each child with autism spectrum disorder is likely to have a  Read More

  • Borderline personality disorder (bpd)

    Borderline personality disorder is a personality disorder characterized by consistently problematic ways of thinking, feeling, and interacting, impulsivity, negative self-image and fear of abandonment, leading to difficulties with interpersonal relationships. BPD affects men as often as women in general, women more than men in treatment populations. Antisocial personality disorder in adults, substance-abuse problems in  Read More

  • Coffin syndrome

    Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes  Read More

  • Craniodigital syndrome of scott

    Scott craniodigital syndrome is a condition that has only been found in two families. The manifestations include unusual head shape, growth and developmental delay, and mild webbing between the fingers and toes (syndactyly)  Read More

  • Depression

    Symptoms of depression can vary from person to person. Key signs and symptoms may include: Depression that temporarily lifts in response to good news or positive events Increased appetite that can cause weight gain Increased desire to sleep, usually more than 10 hours a day Heavy, leaden feeling in your arms or legs that lasts an hour or more in a day — a feeling that is different from fatigue  Read More

  • Diastrophic dysplasia

    Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  Read More

  • Dubowitz syndrome

    It is unknown what causes Dubowitz syndrome. While some affected people have minor DNA additions or deletions (microduplications/microdeletions), others have changes (mutations) in the NSUN4 and LIG4 genes. 1. According to research, this disorder may run in families and be autosomal recessive. All of our genes come in two copies each of us, one from our mother and one from our father. 2. Mutations in genes c  Read More

  • Dyslexia

    Signs of dyslexia can be difficult to recognize before your child enters school, but some early clues may indicate a problem. Once your child reaches school age, your child's teacher may be the first to notice a problem. Severity varies, but the condition often becomes apparent as a child starts learning to read. Before school Signs that a young child may be at risk of dyslexia include: Late talking L  Read More

  • Dysthymia (persistent depressive disorder)

    Dysthymia, now referred to as persistent depressive disorder, is a form of depression that lasts more than two years at a time in adults and more than one year at a time in children and adolescents. Dysthymia can afflict 3%-6% of the United States population -- women more than men and more African Americans than Caucasians and some groups of Hispanic people. Dysthymic disorder usually co-occurs with other disorders, li  Read More

  • Encephalopathy, hypoglycemic

    Pancreatic neuroendocrine neoplasms (pNENs) are an increasingly common group of malignancies that arise within the endocrine tissue of the pancreas. Endocrine tissue is specialized tissue that contains hormone-secreting cells. These cells secrete several different hormones into the blood (endocrine) or to local cells (paracrine, autocrine). These hormones have a variety of functions within the body. Neoplasms that arise from endocrine tissue m  Read More

  • Fountain syndrome

    Fountain syndrome is an extremely rare inherited disorder that is characterized by mental retardation; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); skeletal abnormalities; and/or deafness due to malformation of a structure (cochlea) within the inner ear. Fountain syndrome is inherited as an autosomal recessive trait.  Read More

  • Fragile x syndrome

    Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. Distinctive physical features are sometimes present in affected males including a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes, but these features develop over time and may not be obvious until puberty. Motor and language delays are usually present  Read More

  • Galactocerebrosidase (galc) deficiency

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Globoid leukodystrophy, krabbe's type

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Hair-pulling syndrome

    Trichotillomania (trik-o-til-o-MAY-nee-uh), also called hair-pulling disorder, is a mental disorder that involves recurrent, irresistible urges to pull out hair from your scalp, eyebrows or other areas of your body, despite trying to stop. Hair pulling from the scalp often leaves patchy bald spots, which causes significant distress and can interfere with social or work functioning. People with trichotillomania may go to great lengths t  Read More

  • Hyperaldosteronism with hypokalemic alkatosis

    Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wasting), dehydration, muscle weakness, muscle cramps, frequent urination, and growth deficiency, potentially resulting in dwarfism. It is thought to be caused by a defect in the body's ability to reabsorb  Read More

  • Hyperaldosteronism without hypertension

    Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wasting), dehydration, muscle weakness, muscle cramps, frequent urination, and growth deficiency, potentially resulting in dwarfism. It is thought to be caused by a defect in the body's ability to reabsorb  Read More

  • Hypercalcemia-supravalvar aortic stenosis

    Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open,  Read More

  • Hyperchylomicronemia, familial

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglyce  Read More

  • Ichthyosis spastic neurologic disorder mental retardation

    Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. After infancy, the skin loses its redness and dark scales often appear on the neck and under the arms. Additionally, larger plate-like thick scales may develop on the lower legs. Developmental delay, sp  Read More

  • Infantile respiratory distress syndrome

    Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (PEEP).  Read More

  • Infantile type neuronal ceroid lipofuscinosis

    Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori disease is considered the infantile form of the neuronal ceroid lipofuscinoses. The NCLs are characterized by abnormal accumulation of certain fatty,  Read More

  • Insomnia treatment: sleep aids and stimulants

    Insomnia is difficulty falling or staying asleep, the absence of restful sleep, or poor quality of sleep. Insomnia is a symptom and not a disease.  Read More

  • Kleine-levin hibernation syndrome

    Kleine-Levin syndrome is a rare disorder characterized by the need for excessive amounts of sleep (hypersomnolence), (i.e., up to 20 hours a day); excessive food intake (compulsive hyperphagia); and behavioral changes such as an abnormally uninhibited sexual drive. The disorder primarily affects adolescent males. When awake, affected individuals may exhibit irritability, lack of energy (lethargy), and/or lack of emotions (apathy). They may als  Read More

  • Lowe-terry-maclachlan syndrome

    Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

  • Lysosomal alpha-d-mannosidase deficiency

    Lysosomal alpha-d-mannosidase deficiency (also known as GM1 gangliosidosis) is a rare genetic disorder that can cause developmental delays, learning disabilities, and seizures. It's caused by a lack of an enzyme called alpha-d-mannosidase, which helps break down certain proteins in the body. The enzyme lysosomal alpha-d-mannosidase is responsible for breaking down glycoproteins, which are molecules made up of both  Read More

  • Marinesco-sjogren syndrome-neuropathy

    Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypoton  Read More

  • Migraine headache

    Migraine headache is a result of specific changes within the brain. It causes severe head pain that is often accompanied by sensitivity to light, sound, or smells. Common symptoms of migraine are: Eye pain Sensitivity to light or sound Nausea Vomiting Severe pain, usually on one side of the head that some individuals describe as "pounding" Other types of  Read More

  • Mmr syndrome

    Megalocornea-mental retardation (MMR) syndrome, otherwise known as Neuhauser syndrome, is an extremely rare genetic disorder characterized by distinctive abnormalities of the eye, several degrees of cognitive impairment, and a wide variety of additional symptoms The range and severity of the symptoms varies greatly from one person to another, which has led some researchers to suggest that MMR syndrome encompasses several distinct, but similar  Read More

  • Mucolipidosis iv

    Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene. This deficiency may lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body. Mucolipidosis IV is characterized by mental r  Read More

  • Munchausen syndrome

    Munchausen syndrome is a mental disorder that is characterized by the sufferer causing or pretending to have physical or psychological symptoms in his or herself. Adults aged 20-40 years are the most likely groups to develop Munchausen syndrome. Women with some knowledge or training in health care and men with little familial attachment are particularly vulnerable to this disorder. Munchausen syndrome is often either p  Read More

  • Narcolepsy

    The symptoms of narcolepsy most commonly begin between the ages of 10 and 25. They may worsen for the first few years, and then continue for life. They include: Excessive daytime sleepiness. People with narcolepsy fall asleep without warning, anywhere, anytime. For example, you may suddenly nod off while working or talking with friends. You may sleep for a few minutes or up to a half-hour before awakening a  Read More

  • Ophthalmoarthropathy

    Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected. Affected individuals may also have distinctive facial fea  Read More

  • Organic personality syndrome

    Organic personality syndrome or organic mental syndrome is a mental disorder characterized by a short-term or long-term personality disturbance largely due to brain dysfunction. The ability to reason, remember, imagine, and learn may not be affected, but the individual's judgment may be so poor that continual supervision may be necessary. Left unattended, he or she may behave in ways that could cause difficult or dangerous problems.  Read More

  • Paroxysmal sleep

    Paroxysmal sleep is a rare and unusual sleeping disorder that causes people to suddenly fall asleep for short periods of time, usually lasting less than one minute. It can occur at any time of day or night, but most often occurs when the person is in the early stages of falling asleep or when they’re waking up from a nap. It can last anywhere between a few seconds to several minutes, and it usually happens once every hou  Read More

  • Posttraumatic stress disorder (ptsd)

    Posttraumatic stress disorder (PTSD) is an emotional illness that was first formally diagnosed in soldiers and war veterans and is usually caused by terribly frightening, life-threatening, or otherwise highly unsafe experiences but can also be caused by devastating life events like unemployment or divorce. PTSD symptom types include re-experiencing the trauma, avoidance, emotional numbing, and hyperarousal. PTSD has a  Read More

  • Premenstrual dysphoric disorder (pmdd)

    Premenstrual dysphoric disorder (PMDD) can be considered to be a severe form of premenstrual syndrome (PMS), with symptoms that interfere with daily activities and functioning. PMDD occurs in 3% to 8% of menstruating women. Fatigue, mood changes, and abdominal bloating are common symptoms, but numerous other symptoms may occur. PMDD is diagnosed by a symptom diary or chart in which a woman records her daily s  Read More

  • Problem sleepiness

    Problem sleepiness occurs when sleepiness during the day interferes with work or social functioning. Symptoms of problem sleepiness may include difficulty concentrating, falling asleep while driving, or problems with emotional control. There are a number of causes of problem sleepiness, including sleep disorders; other medical conditions; certain medications; substances like drugs, alcohol, or caffeine; or an altered s  Read More

  • Psychotic disorders

    Psychotic disorders are mental illnesses that make it difficult to think logically and clearly. They can cause hallucinations, which are false perceptions of things that aren't really happening, and delusions, which are false beliefs about what's happening in the world. Psychotic disorders can also affect your mood and behavior. Psychotic disorders are often grouped into two categories: schizophrenia and bipolar d  Read More

  • Schizoaffective disorder

    Schizoaffective disorder symptoms may vary from person to person. People with the condition experience psychotic symptoms, such as hallucinations or delusions, as well as symptoms of a mood disorder — either bipolar type (episodes of mania and sometimes depression) or depressive type (episodes of depression). The course of schizoaffective disorder usually features cycles of severe symptoms followed by periods of improvement with  Read More

  • Short stature-hyperextensibility-rieger

    SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:(S)= short stature(H)= hyperextensibility of joints and/or hernia (inguinal)(O)= ocular depression(R) =Rieger anomaly(T) =teething delayOther characteristics common in SHORT syn  Read More

  • Sick building syndrome (environmental illness, multiple chemical sensitivity or mcs)

    Some clinicians believe that some people develop sick building syndrome (also known as environmental illness, building-related illness (BRI), or multiple chemical sensitivity [MCS]) as a result of exposure to as-yet-undescribed chemical, biological, or physical agents that are thought to be present in buildings (s). Since its introduction in 1986, the phrase has generated debate. Building-related illness, or BRI, is a term tha  Read More

  • Sleep apnea

    The signs and symptoms of obstructive and central sleep apneas overlap, sometimes making the type of sleep apnea more difficult to determine. The most common signs and symptoms of obstructive and central sleep apneas include: Loud snoring, which is usually more prominent in obstructive sleep apnea Episodes of breathing cessation during sleep witnessed by another person Abrupt awakenings accompanied by shortne  Read More

  • Spd calcinosis

    Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased mu  Read More

  • Torticollis

    Cervical dystonia, also known as spasmodic torticollis, is a rare neurological disorder characterized by involuntary muscle contractions in the neck that cause abnormal movements and postures of the neck and head. In some cases, these abnormal contractions may be sustained or continuous; in others, they may be present as spasms that can resemble tremor. The severity of cervical dystonia can vary, but the disorder can cause significant pain and  Read More

  • Treacher collins-franceschetti syndrome 1

    Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

  • Trichotillomania

    Signs and symptoms of trichotillomania often include: Repeatedly pulling your hair out, typically from your scalp, eyebrows or eyelashes, but sometimes from other body areas, and sites may vary over time An increasing sense of tension before pulling, or when you try to resist pulling A sense of pleasure or relief after the hair is pulled Noticeable hair loss, such as shortened hair or thinned or bal  Read More

  • Visual amnesia

    Visual memory-deficit amnesia is caused by damage to areas of the visual system that store visual information. Because it is caused by a deficit in access to stored visual material and not by an impaired ability to encode or retrieve new material, it has the otherwise infrequent properties of a more severe retrograde than anterograde amnesia with no temporal gradient in the retrograde amnesia. Of the number of cases of long-term vi  Read More

  • Wagr syndrome

    WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. 1. Most people with WAGR syndrome hav  Read More

  • Werner syndrome

    Werner Syndrome is a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria). Although the disorder is typically recognized by the third or fourth decades of life, certain characteristic findings are present beginning during adolescence and early adulthood.Individuals with Werner Syndrome have an abnormally slow growth rate, and there is cessation of growth at puberty. As a result  Read More

  • X-linked mental retardation with hypoton...

    MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities. With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. However, by about two months of age, affected infants may seem  Read More

  • X-linked mental retardation-clasped thum...

    L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), aphasia (difficulty with speaking), seizures, and agenesis of the corpus callosum (underdeveloped or absent connecting tissue between the left an  Read More

  • Xerodermic idiocy

    De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensit  Read More