This article is about the fear of loud sounds. For the aversion to specific sounds, such as eating, coughing, or alarms, see Misophonia . For the fear of making or taking phone calls, see Telephone phobia . Phonophobia Other names Ligyrophobia, sonophobia, acousticophobia [1] Specialty Psychiatry , neurology Phonophobia , also called ligyrophobia or sonophobia , is a fear of or aversion to loud sounds (for example fireworks)—a type of specific phobia . [2] It is a very rare phobia which is often the symptom of hyperacusis . Sonophobia can refer to the hypersensitivity of a patient to sound and can be part of the diagnosis of a migraine . Occasionally it is called acousticophobia . [1] The term phonophobia comes from Greek φωνή - phōnē , "sound" [3] and φόβος - phobos , "fear". [4] Ligyrophobics may be fearful of devices that can suddenly emit loud sounds, such as computer speakers or fire alarms. When operating a device such as a home theater system, computer, television, or CD player, they may wish to have the volume turned down all the way before doing anything that would cause the speakers to emit sound, so that once the command to produce sound is given, the user can raise the volume of the speakers to a comfortable listening level.

Summary Clinical characteristics. Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years.

A number sign (#) is used with this entry because of evidence that this form of Jervell and Lange-Nielsen syndrome (JLNS1) is caused by homozygous or compound heterozygous mutations in the KCNQ1 gene (607542) on chromosome 11p15. Long QT syndrome-1 (LQT1; 192500), also known as Ward-Romano syndrome, is caused by heterozygous mutation in the KCNQ1 gene. Description The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957). Genetic Heterogeneity of Jervell and Lange-Nielsen Syndrome Also see JLNS2 (612347), caused by mutation in the KCNE1 gene (176261) on chromosome 21q22. Clinical Features Jervell and Lange-Nielsen (1957) reported a family in which 4 of 6 children, born to unrelated parents, had congenital deafness and prolonged QT interval and died suddenly in childhood.

A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias. Epidemiology The disease is very rare. Prevalence is unknown and varies depending on the population studied (1/100,000-1/1,000,000) but is more common in countries in which consanguineous marriage is frequent. Clinical description Almost 50% of patients become symptomatic before age of 3 years. The typical presentation of Jervell and Lange-Nielsen syndrome (JLNS) is a congenitally deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Deafness is congenital, bilateral, profound and sensorineural. The QT interval is usually markedly prolonged (>500 ms) and associated with tachyarrhythmias (including ventricular tachycardia, episodes of Torsades de Pointes (TdP) ventricular tachycardia and ventricular fibrillation) that may cause syncope or sudden death.

Jervell Lange-Nielsen syndrome (JLNS) is an inherited disorder characterized by deafness present at birth and abnormalities of the electrical system of the heart. It is a form of long QT syndrome . This refers to the QT interval measurement seen on the electrocardiogram . The severity of cardiac symptoms seen in individuals varies from no apparent symptoms to increasing heartbeat ( tachycardia ), fainting, and cardiac arrest. There are two different types of JLNS type: 1, caused by mutations in the KCNQ1 gene, and type 2, caused by mutations in the KCNE1 gene. Both types are inherited in an autosomal recessive manner. The treatment of individuals with JLNS focuses on treating hearing loss utilizing devices such as cochlear implants and preventing other symptoms such as fainting and cardiac arrest.

A number sign (#) is used with this entry because of evidence that Jervell and Lange-Nielsen syndrome-2 (JLNS2) is caused by homozygous or compound heterozygous mutation in the KCNE1 gene (176261) on chromosome 21q22. Long QT syndrome-5 (LQT5; 613695) is caused by heterozygous mutation in the KCNE1 gene. Description The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness. For a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see 220400. Mapping In a small consanguineous British family with JLNS, Tyson et al. (1997) excluded linkage to KCNQ1 (607542), and found that the affected children were homozygous by descent for markers on chromosome 21, in a region containing the KCNE1 gene (176261).

Overview Intussusception (in-tuh-suh-SEP-shun) is a serious condition in which part of the intestine slides into an adjacent part of the intestine. This telescoping action often blocks food or fluid from passing through. Intussusception also cuts off the blood supply to the part of the intestine that's affected. This can lead to infection, death of bowel tissue or a tear in the bowel, called perforation. Intussusception Intussusception is a rare, serious disorder in which one part of the intestine slides inside an adjacent part.

The jejunal polyps of Peutz-Jeghers syndrome (175200) lead to intussusception. Idiopathic intussusception shows a modest degree of familial aggregation; see review of Jolly et al. (1982), who reported a family in which 5 members in 3 generations had intussusception in infancy. A girl without intussusception developed malignant hyperthermia of a nonrigid type (145600). Her father and a sister had elevated levels of serum creatine kinase. Two older sibs died inexplicably following anesthesia for intussusception surgery and may have had malignant hyperthermia.

Summary Clinical characteristics. ROR2 -related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood. Diagnosis/testing.

A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-2 (DRS2) is caused by heterozygous mutation in the DVL1 gene (601365) on chromosome 1p36. Description Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310).

A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-1 (DRS1) is caused by heterozygous mutation in the WNT5A gene (164975) on chromosome 3p14. Description Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310). Clinical Features Robinow et al. (1969) reported a family with a short stature syndrome inherited over 6 generations. Because of bulging forehead, depressed nasal bridge, and short limbs, achondroplasia (ACH; 100800) was suggested; however, the spine and pelvic radiologic findings were nearly normal.

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Epidemiology Exact prevalence is unknown. About 200 cases have been reported to date. Cases have been reported primarily from the USA, Arab countries, Turkey, Czech Republic and Slovakia, the Indian subcontinent, and Brazil. Prevalence in other geographic areas is unknown. There is an equal male-to-female ratio. Clinical description Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome, see this term) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome, see this term).

A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-3 (DRS3) is caused by heterozygous mutation in the DVL3 gene (601368) on chromosome 3q27. Description The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016). For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (268310). Molecular Genetics In a cohort of 34 individuals with a clinical diagnosis of possible Robinow syndrome, White et al. (2016) performed direct Sanger sequencing of the penultimate and final exons of the DVL1 (601365), DVL2 (602151), and DVL3 genes, and identified 1 patient with a 1-bp deletion within the final exon of DVL3 (601368.0001). Sanger sequencing the penultimate and final exons of DVL1, DVL2, and DVL3 in 17 Robinow syndrome cases from an in-house database identified 4 more patients with mutations in DVL3, including two 1-bp deletions (601368.0002-601368.0003) and 2 splice site mutations (601368.0004-601368.0005).

Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant. Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis ); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes , a short nose with an upturned tip, a wide nasal bridge , and a broad and triangle-shaped mouth. Together, these facial features are sometimes described as "fetal facies" because they resemble the facial structure of a developing fetus.

The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Epidemiology About 100 cases of this type have been reported in the literature to date. Clinical description The clinical signs are generally milder in dominant cases of RS than in the AR form. In the presence of rib fusions, the recessive form of the syndrome should be considered. Etiology Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.

Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis ; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development.

Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and symptoms vary based on which parts of the central nervous system are affected, but may include nausea and vomiting; seizures; headaches; arm or leg weakness; confusion; double vision and/or hearing loss. The exact underlying cause of primary CNS lymphoma is poorly understood; however, people with a weakened immune system (such as those with acquired immunodeficiency syndrome ) or who have had an organ transplant appear to have an increased risk of developing the condition. Treatment varies based on the severity of the condition and location of the cancerous cells.

Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.

A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. Epidemiology Approximately 200 cases have been reported to date and the condition is rare. However, the phenotype is likely under-recognized. Clinical description Infants present with severe prenatal and postnatal growth retardation, birth weight usually at or below the 2nd centile. Growth impairment is greater in those with CUL7 variants. The head circumference is relatively large. Characteristic facial features include: triangular-shaped face, pointed chin, frontal bossing, hypoplastic midface, fleshy, upturned nose , prominent mouth and lips.

Summary Clinical characteristics. Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias. Diagnosis/testing. The diagnosis of three M syndrome is established in a proband with characteristic clinical and radiographic features. Identification of biallelic pathogenic variants in CCDC8 , CUL7 , or OBSL1 can establish the diagnosis if clinical and radiographic features are inconclusive.

Part of a series on Psychology Outline History Subfields Basic types Abnormal Behavioral genetics Biological Cognitive / Cognitivism Comparative Cross-cultural Cultural Differential Developmental Evolutionary Experimental Mathematical Neuropsychology Personality Positive Quantitative Social Applied psychology Applied behavior analysis Clinical Community Consumer Counseling Critical Educational Environmental Ergonomics Forensic Health Humanistic Industrial and organizational Legal Medical Military Music Occupational health Political Religion School Sport Traffic Lists Disciplines Organizations Psychologists Psychotherapies Publications Research methods Theories Timeline Topics Psychology portal v t e Cognitive disorders (CDs) , also known as neurocognitive disorders (NCDs) , are a category of mental health disorders that primarily affect cognitive abilities including learning, memory, perception, and problem solving. Neurocognitive disorders include delirium and mild and major neurocognitive disorder (previously known as dementia ). They are defined by deficits in cognitive ability that are acquired (as opposed to developmental), typically represent decline, and may have an underlying brain pathology. [1] The DSM-5 defines six key domains of cognitive function: executive function , learning and memory, perceptual-motor function, language , complex attention, and social cognition . Although Alzheimer's disease accounts for the majority of cases of neurocognitive disorders, there are various medical conditions that affect mental functions such as memory, thinking, and the ability to reason, including frontotemporal degeneration, Huntington’s disease, Lewy body disease, traumatic brain injury (TBI), Parkinson’s disease, prion disease, and dementia/neurocognitive issues due to HIV infection. [2] Neurocognitive disorders are diagnosed as mild and major based on the severity of their symptoms. While anxiety disorders , mood disorders , and psychotic disorders can also have an effect on cognitive and memory functions, the DSM-IV-TR does not consider these cognitive disorders, because loss of cognitive function is not the primary (causal) symptom. [3] Additionally, developmental disorders such as autism spectrum disorder are typically developed at birth or early in life as opposed to the acquired nature of neurocognitive disorders.