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 is a fear of being outside or otherwise being in a situation from which one either cannot escape or from which escaping would be difficult or humiliating. Like other phobias, agoraphobia often goes unreported, probably because many phobia sufferers find ways to avoid the situations to which they are phobic. Agoraphobia often occurs in combination with panic disorder. Agoraphobia occurs alone in le  Read More

A personality disorder (PD) is a persistent pattern of thoughts, feelings, and behaviors that is significantly different from what is considered normal within the person's own culture. Personality disorders are grouped into clusters A, B, and C based on the dominating symptoms. Antisocial personality disorder is specifically a pervasive pattern of disregarding and violating the rights of others and may include symptoms  Read More

Attention deficit hyperactivity disorder is a behavioral condition characterized by distractibility, impulsivity, and/or hyperactivity. Although there is no single cause for ADHD, there are a number of biological and social factors that seem to increase the risk of a person developing the disorder. ADHD affects from 2%-6% of adults, men and women equally. Adults with ADHD may show little to no hyperactivity b  Read More

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 spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patterns of behavior. The term "spectrum" in autism spectrum disorder refers to the wide range of symptoms and severity. Autism spectrum disorder includes c  Read More

Autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patterns of behavior. The term "spectrum" in autism spectrum disorder refers to the wide range of symptoms and severity. Autism spectrum disorder includes c  Read More

Borderline personality disorder is a mental health disorder that impacts the way you think and feel about yourself and others, causing problems functioning in everyday life. It includes self-image issues, difficulty managing emotions and behavior, and a pattern of unstable relationships. With borderline personality disorder, you have an intense fear of abandonment or instability, and you may have difficulty tolerating being alone. Yet  Read More

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

Brief psychotic disorder is in the group of mental illnesses called the schizophrenia spectrum and other psychotic disorders. Symptoms of brief psychotic disorder can include hallucinations or delusions, and they last no longer than a month. The specific causes for brief psychotic disorder are usually not known, but it is thought to be due to a mix of inherited, biological, environmental, and psychological risk factors  Read More

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

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

Frontotemporal dementia (FTD), or Pick's disease, is a syndrome featuring shrinking of the frontal and temporal anterior lobes of the brain. The symptoms of frontotemporal dementia fall into two clinical patterns that involve either: (1) changes in behavior, or (2) problems with language. Frontotemporal dementia is often inherited and runs in families. There is no treatment for frontotemporal dementia and tre  Read More

Depression is a mood disorder that causes a persistent feeling of sadness and loss of interest. Also called major depressive disorder or clinical depression, it affects how you feel, think and behave and can lead to a variety of emotional and physical problems. You may have trouble doing normal day-to-day activities, and sometimes you may feel as if life isn't worth living. More than just a bou  Read More

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 is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable i  Read More

Dyslexia is difficulty in learning to read. Dyslexia can be related to brain injury, heredity, or hormonal influences. Letter and number reversals are a common warning sign of dyslexia. Diagnosis of dyslexia involves reviewing the child's processing of information from seeing, hearing, and participating in activities. Treatment of dyslexia ideally involves planning between the parent(s) and the teac  Read More

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

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

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

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 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

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

Generalized anxiety disorder (GAD) is a mood disorder that is characterized by multiple and/or nonspecific worries that interfere with the person's life in some way. The most common anxiety disorders are specific phobias. Besides generalized anxiety disorder, other anxiety disorders include separation anxiety disorder in children, social anxiety disorder, selective mutism, panic disorder, and agoraphobia. While obsessi  Read More

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

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

Migraine is a type of headache that is often localized in a certain area of the head and is sometimes accompanied by a pronounced sensitivity to light and sound. Other common migraine symptoms include nausea and vomiting. Migraines are usually gradual in onset, progressively more painful and then undergo a gradual resolution. When migraines are mild to moderate, they are usually described as being dull, deep and steady. When severe, migraines  Read More

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal)  Read More

A number of factors, including unrealistic expectations, financial pressures, and too many commitments can cause stress and anxiety at holiday time. Certain people may feel anxious or depressed around the winter holidays due to seasonal affective disorder (SAD), sometimes referred to as seasonal depression. Headaches, excessive drinking, overeating, and insomnia are some of the possible consequences of poorly managed h  Read More

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

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

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

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

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

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

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 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

Juberg-Marsidi syndrome is an extremely rare X-linked genetic disorder that is fully expressed in males only, and is apparent at birth (congenital) or during the first few weeks of life (neonatal period). Affected children exhibit severe mental retardation; delays in reaching developmental milestones (e.g., crawling, walking, etc.); muscle weakness; diminished muscle tone (hypotonia); and/or delayed bone growth as well as growth retardation, r  Read More

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

Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male).  Read More

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

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Sympt  Read More

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

Factitious disorders are conditions in which a person acts as if he or she has a physical or mental illness when he or she is not really sick. Factitious disorder by proxy is when a person acts as if a person in their care has an illness when they do not. People with factitious disorders deliberately create or exaggerate symptoms of an illness in several ways. They may lie about or fake symptoms, hurt themselves to bring on symptoms, o  Read More

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

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

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypopla  Read More

Motion sickness is the feeling you get when the motion you sense with your inner ear is different from the motion you visualize. It is a common condition that occurs in some people who travel by car, train, airplane or boat. Many people suffer from this condition if they ride on a roller coaster or other similar amusement park rides. Motion sickness progresses from a feeling of uneasiness to sweating and/or dizziness. This is usually quickly f  Read More

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 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

Munchausen syndrome by proxy (MSBP) is now classified as a somatic symptom and related disorder. It is referred to as factitious disorder that is imposed by one individual on another. MSBP is characterized by feigning or intentionally producing physical or emotional symptoms in another person in order to place that person in the sick role. This disorder is named after Baron Karl Friedrich von Munchausen, who was known  Read More

Narcolepsy is a chronic disease of the central nervous system. The symptoms include excessive daytime sleepiness (EDS), loss of muscle tone (cataplexy), distorted perceptions (hypnagogic hallucinations), inability to move or talk (sleep paralysis), disturbed nocturnal sleep, and automatic behavior. Narcolepsy usually begins in teenagers or young adults and affects both sexes equally. Abnormalities in the structure and  Read More

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 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

Narcolepsy is a neurological sleep disorder characterized by chronic, excessive attacks of drowsiness during the day, sometimes called excessive daytime sleepiness (EDS). Attacks of drowsiness may persist for only a few seconds or several minutes. These episodes vary in frequency from a few incidents to several during a single day. Nighttime (nocturnal) sleep patterns may also be disrupted. Three additional symptoms often associated with narco  Read More

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) 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 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 include schizophrenia and a number of lesser-known disorders. The number of people who develop a psychotic disorder tends to vary depending on the country, age, and gender of the sufferer, as well as on the specific kind of disorder. There are genetic, biological, environmental, and psychological risk factors for developing a psychotic disorder. Usually with any psychotic disorder, the per  Read More

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it. Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen ins  Read More

Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, extra fingers and toes and underdeveloped external genitals in males. The severity of SLOS varies greatly in affected individuals, even  Read More

Schizoaffective disorder is an illness characterized by psychotic symptoms (delusions and hallucinations) and mood problems. There are two types of schizoaffective disorder: bipolar and depressive. There is no specific known cause for schizoaffective disorder. Schizoaffective disorder symptoms and signs include those of schizophrenia in addition to a manic episode and/or a major depressive disorder.  Read More

Schizophrenia is a chronic, severe, debilitating mental illness that affects about 1% of the population, more than 2 million people in the United States alone. With the sudden onset of severe psychotic symptoms, the individual is said to be experiencing acute psychosis. Psychotic means out of touch with reality or unable to separate real from unreal experiences. There is no known single cause of schizophrenia. As discu  Read More

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 is believed by some to be an illness caused by unknown agents in buildings. Sick building syndrome is a controversial subject because many experts do not think it is a true syndrome. Sick building syndrome has no known cause. For those who believe the syndrome is real, many risk factors are cited. Many nonspecific symptoms cited for the syndrome fit no pattern. There  Read More

Sleep apnea is defined as a reduction or cessation of breathing during sleep. The three types of sleep apnea are central apnea, obstructive apnea, and a mixture of central and obstructive apnea. Central sleep apnea is caused by a failure of the brain to activate the muscles of breathing during sleep. Obstructive sleep apnea is caused by the collapse of the airway during sleep. The complications of o  Read More

Hypersomnia, or excessive sleepiness, is a condition in which a person has trouble staying awake during the day. People who have hypersomnia can fall asleep at any time; for instance, at work or while they are driving. They may also have other sleep-related problems, including a lack of energy and trouble thinking clearly. According to the National Sleep Foundation, up to 40% of people have some symptoms of hypersomnia from time to tim  Read More

Narcolepsy is a neurological sleep disorder characterized by chronic, excessive attacks of drowsiness during the day, sometimes called excessive daytime sleepiness (EDS). Attacks of drowsiness may persist for only a few seconds or several minutes. These episodes vary in frequency from a few incidents to several during a single day. Nighttime (nocturnal) sleep patterns may also be disrupted. Three additional symptoms often associated with narco  Read More

Sleepwalking is a disorder characterized by walking or other activities while seemingly still asleep. Sleepwalking is not a serious disorder, although children can be injured by objects during sleepwalking. Although disruptive and frightening for parents in the short-term, sleepwalking is not associated with long-term complications. Prolonged disturbed sleep may be associated with school and behavioral issues  Read More

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

Stress is a normal part of life that can either help us learn and grow or can cause us significant problems. Stress releases powerful neurochemicals and hormones that prepare us for action (to fight or flee). If we don't take action, the stress response can create or worsen health problems. Prolonged, uninterrupted, unexpected, and unmanageable stresses are the most damaging. Stress can be managed b  Read More

Stress is any physical, chemical, or emotional factor that causes bodily or mental unrest. While elimination of stress is unrealistic, management of stress is an attainable and realistic goal that can be achieved by a number of strategies. People with strong social support networks report less stress and fewer negative symptoms of stress than those who lack social support. Stress-management techniques include  Read More

Filippi syndrome is an extremely rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation. Primary physical findings include growth delays, webbing or fusion (syndactyly) of certain fingers and toes, inward deviation or bending (clinodactyly) of the fifth fingers ("pinkies") and microcephaly, cond  Read More

Tardive dyskinesia (TD) is an involuntary neurological movement disorder caused by the use of dopamine receptor blocking drugs that are prescribed to treat certain psychiatric or gastrointestinal conditions. Long-term use of these drugs may produce biochemical abnormalities in the area of the brain known as the striatum. The reasons that some people who take these drugs may get tardive dyskinesia, and some people do not, is unknown. Tardive dy  Read More

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

Acquired aplastic anemia is a rare disorder caused by profound, almost complete bone marrow failure. Bone marrow is the spongy substance found in the center of the bones of the body, in adults mainly the spine, pelvis, and large bones of the legs. The bone marrow produces specialized cells (hematopoietic stem cells) that grow and eventually develop into red blood cells (erythrocytes), white blood cells (leukocytes), and platelets. In acquired  Read More

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 (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

Primary visual agnosia is a rare neurological disorder characterized by the total or partial loss of the ability to recognize and identify familiar objects and/or people by sight. This occurs without loss of the ability to actually see the object or person. The symptoms of visual agnosia occur as a result of damage to certain areas of the brain (primary) or in association with other disorders (secondary).  Read More

WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. "WAGR" is an acronym for the characteristic abnormalities associated with the syndrome. The acronym stands for (W)ilms' Tumor, the most common form of kidney cancer in children; (A)niridia, partial or complete absence of the colore  Read More

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

Denys-Drash syndrome (DDS) is characterized by abnormal kidney function (congenital nephropathy), a cancerous tumor of the kidney called Wilms tumor, and disorders of sexual development in affected males. Most affected females have normal genitalia. DDS is agenetic disorder caused by mutations in the Wilms tumor suppressor gene, WT1.  Read More

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

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

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