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

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) 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

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 Other children may develop normally for the first few months or years of life, but then suddenly become withdrawn or aggressive or lose language skills they've already acquired.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

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 Other children may develop normally for the first few months or years of life, but then suddenly become withdrawn or aggressive or lose language skills they've already acquired.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 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

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

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

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 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

There are a variety of treatments available for controlling anxiety, including several effective anti-anxiety medications and specific forms of psychotherapy. In terms of medications, buspirone (Buspar) is known to be quite effective for treating GAD. However, it seems to be less effective in managing many other disorders that often co-occur (are comorbid) with GAD. Therefore, specific members of the selective serotonin reuptake inhibitor (SSR  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

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

Hyperchylomicronemia, familial, is a rare genetic disorder that causes people to have high levels of chylomicrons in their blood. Chylomicrons are fat molecules that are produced when you digest food. They're supposed to be broken down and used for energy, but people with hyperchylomicronemia can't break them down properly. 1. People with hyperchylomicronemia can't digest fat as well as healthy people do—tha  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

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

Lowe-Terry-Maclachlan syndrome is a rare genetic disorder that causes abnormalities in the development of the skeleton, eyes, and other parts of the body.There are four risk factors for Lowe-terry-maclachlan syndrome:1. Genetic predisposition. The disease is caused by a mutation in the TSC1 or TSC2 gene. If one or both parents have the gene, their children are more likely to develop it.2. Ce  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 syndrome or the MMR syndrome is a rare genetic disorder that affects the shape of the cornea and the way a child's brain develops. People who have this disorder are born with eyes that are larger than normal, which can cause vision problems. In addition, this condition causes mental disabilities that range from mild to severe. The cornea is the clear, outermost layer of the eye. It  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

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

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

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

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

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

Sleepiness is the desire to fall asleep. It's normal to feel sleepy at times, especially if you've been awake for a long time or haven't had enough sleep the night before. But when sleepiness interferes with your daily activities and causes problems at home, school or work, it can become a disorder called hypersomnolence. Hypersomnolence usually involves extreme daytime sleepiness that affects your ability to function during the d  Read More

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

Rosewater syndrome is a mental illness that makes people see and hear things that aren't there. It's caused by brain damage, which can be caused by a disease or injury to the brain. The symptoms of rosewater syndrome are hallucinations and delusions. Hallucinations are things you see or hear that aren't really there, like seeing monsters in your room at night or hearing voices when no one else is around. Delusions  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 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

Schizophrenia involves a range of problems with thinking, behavior or emotions. Signs and symptoms may vary, but usually involve delusions, hallucinations or disorganized speech, and reflect an impaired ability to function. The effect can be disabling. Schizophrenia symptoms generally start in the mid- to late 20s. It's uncommon for children to be diagnosed with schizophrenia. Early-onset schizophrenia occurs before age 18. Very early-  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

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

Sleepwalking usually occurs early in the night — often one to two hours after falling asleep. It's unlikely to occur during naps. A sleepwalking episode can occur rarely or often, and an episode generally lasts several minutes, but can last longer. Someone who is sleepwalking may: Get out of bed and walk around Sit up in bed and open his or her eyes Have a glazed, glassy-eyed expression  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

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

Torticollis is a medical condition that causes your neck muscles to become tight and shortened. It can be caused by several different things, including whiplash, trauma to the head or neck, cerebral palsy, or other conditions. Torticollis can cause pain in your neck, shoulder, and upper back. The pain can be severe enough that it interferes with your ability to sleep or work. The muscle spasms in torticollis may c  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

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

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

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