Overview Central sleep apnea is a disorder in which breathing repeatedly stops and starts during sleep. Central sleep apnea occurs because the brain doesn't send proper signals to the muscles that control breathing. This condition is different from obstructive sleep apnea, in which breathing stops because the throat muscles relax and block the airway. Central sleep apnea is less common than obstructive sleep apnea. Central sleep apnea can result from other conditions, such as heart failure and stroke. Another possible cause is sleeping at a high altitude. Treatments for central sleep apnea might involve managing existing conditions, using a device to assist breathing or using supplemental oxygen.

Adickes et al. (1986) described lethal sleep apnea in 4 of 6 sibs, including a pair of twin girls. The first twin developed normally until the age of 25 months when, during sleep, she developed irregular respirations, perioral cyanosis, flaccidity, and urinary incontinence. Several other similar episodes followed during one of which the child died at the age of 27 months. The second twin first displayed sleep apnea at age 27 months, shortly after the death of her twin sister. She died after an apneic episode at the age of 31 months. A brother died at 18 months after a single episode of sleep apnea.

Sequeiros and Martins da Silva (1988) studied a large family with 6 cases of sudden infant death syndrome (SIDS; 272120) and at least 4 cases of infantile sleep apnea ('near-miss SIDS') that occurred in 2 successive generations. They postulated that a structural CNS defect or a delay in maturation inherited in an autosomal dominant manner predisposes to SIDS in this family, with peak risk at about age 3 months. Survivors may suffer from recurrent episodes of infantile apnea or be completely asymptomatic. Somnograms remained abnormal as late as age 5 years. Misc - Frequent sudden infant death syndrome Neuro - Infantile sleep apnea Inheritance - Autosomal dominant ▲ Close

Overview Wheat allergy is an allergic reaction to foods containing wheat. Allergic reactions can be caused by eating wheat and also, in some cases, by inhaling wheat flour. Avoiding wheat is the primary treatment for wheat allergy, but that isn't always as easy as it sounds. Wheat is found in many foods, including some you might not suspect, such as soy sauce, ice cream and hot dogs. Medications may be necessary to manage allergic reactions if you accidentally eat wheat.

Overview Mitral valve stenosis — sometimes called mitral stenosis — is a narrowing of the valve between the two left heart chambers. The narrowed valve reduces or blocks blood flow into the heart's main pumping chamber. The heart's main pumping chamber is the lower left heart chamber, also called the left ventricle. Mitral valve stenosis can make you tired and short of breath. Other symptoms may include irregular heartbeats, dizziness, chest pain or coughing up blood. Some people don't notice symptoms. Mitral valve stenosis can be caused by a complication of strep throat called rheumatic fever.

Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Epidemiology The prevalence of CNC is unknown but it is a rare disease with around 160 index cases identified so far. Clinical description Skin pigmentation anomalies include lentigines and blue nevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD; see this term). PPNAD, a rare cause of Cushing's syndrome (see this term), is due to a primary bilateral adrenal defect that can be also observed in some patients without other CNC manifestations or a familial history of the disease.

A number sign (#) is used with this entry because of evidence that complete congenital stationary night blindness type 1F (CSNB1F) is is caused by compound heterozygous mutation in the LRIT3 gene (615004) on chromosome 4q25. For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Zeitz et al. (2013) studied a 45-year-old woman who from childhood had visual blurring and night-vision disturbances. At age 4 years, she had surgery for strabismus of the right eye and was prescribed glasses for myopia. At age 25 years, she underwent laser treatment for retinal tears. At age 45 years, she underwent electroretinography (ERG) for the first time, which revealed features of complete congenital stationary night blindness: undetectable responses to a dim flash under dark-adapted conditions, a negative waveform in the mixed rod-cone response in the dark-adapted state, and an unusual square-shaped a-wave in the cone ERG.

A number sign (#) is used with this entry because congenital stationary night blindness type 1B is caused by mutation in the GRM6 gene (604096) on chromosome 5q35. For a general phenotypic description and discussion of the genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Gassler (1925) constructed an instructive pedigree of an inbred Swiss kindred with night blindness and myopia which was reproduced by Francois (1961). Merin et al. (1970) and Der Kaloustian and Baghdassarian (1972) reported instructive families. Weleber and Tongue (1987) emphasized the possible confusion of autosomal recessive congenital stationary night blindness with Leber congenital amaurosis (see 204000).

A number sign (#) is used with this entry because a form of autosomal dominant congenital stationary night blindness is caused by mutations in the gene encoding rhodopsin (RHO; 180380). Other forms of autosomal dominant CSNB can be caused by mutation in the PDE6B gene (180072) on chromosome 4p16 and the GNAT1 gene (139330) on chromosome 3p21. For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Sieving et al. (1992) studied a large Michigan kindred with no detectable rod vision. Despite the absence of detectable rod function, cone electroretinography (ERG) amplitudes were normal in 5 and only partially reduced in 2 other older individuals.

A number sign (#) is used with this entry because of evidence that congenital stationary night blindness type 1G (CSNB1G) is caused by homozygous mutation in the GNAT1 gene (139330) on chromosome 3p21. An autosomal dominant form of CSNB (CSNBAD3; 610444) is also caused by mutation in the GNAT1 gene. For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Naeem et al. (2012) studied 4 affected members of a consanguineous Pakistani family who all reported an inability to see at night from early childhood. Visual acuity and color vision were normal, and fundus photographs showed no signs of retinal artery attenuation or bone spicule pigmentation.

A number sign (#) is used with this entry because this form of complete congenital stationary night blindness is caused by homozygous mutation in the SLC24A1 gene (603617) on chromosome 15q22. Description CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Riazuddin et al. (2010) studied 5 affected individuals from 4 sibships of a large consanguineous Pakistani pedigree from the Punjab province who reported night blindness with normal daytime vision since early childhood.

A number sign (#) is used with this entry because of evidence that autosomal recessive complete congenital stationary night blindness-1C can be caused by homozygous or compound heterozygous mutation in the TRPM1 gene (603576) on chromosome 15q13-q14. For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Li et al. (2009) studied 3 families with complete congenital stationary night blindness (CSNB), 1 of South Asian ethnicity and 2 of Caucasian European descent, in which affected members had myopia, reduced central vision, nystagmus, and electroretinographic (ERG) evidence of ON bipolar cell dysfunction typical of complete CSNB. None had abnormalities of skin pigmentation, although other skin conditions were reported, including dry skin requiring emollients, a history of treatment for 'eczema,' and an uncharacterized condition 'similar to epidermolysis bullosa simplex.' Mapping In a consanguineous family of South Asian ethnicity with complete CSNB, Li et al. (2009) performed genomewide linkage analysis and identified a 15.9-Mb candidate region on proximal chromosome 15q, flanked by the polymorphisms rs2090622 and rs10518928.

A number sign (#) is used with this entry because of evidence that autosomal dominant congenital stationary night blindness-3 (CSNBAD3) is caused by heterozygous mutation in the GNAT1 gene (139330) on chromosome 3p21. An autosomal recessive form of CSNB (CSNB1G; 616389) is also caused by mutation in the GNAT1 gene. For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Dryja et al. (1996) summarized early reports of the most famous family with dominantly inherited night blindness, that descended for some 11 generations from Jean Nougaret (1637-1719), a butcher from Provence who settled in Vendemian, a small village near Montpellier in the south of France. Florent Cunier, the Belgian ophthalmologist who founded Annales d'oculistique, heard of the family, examined some affected members, and stimulated M.

A number sign (#) is used with this entry because this form of complete congenital stationary night blindness (CSNB1E) is caused by homozygous or compound heterozygous mutation in the GPR179 gene (614515) on chromosome 17q12. Description Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by Peachey et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Peachey et al. (2012) studied 2 probands with complete congenital stationary night blindness (cCSNB).

A number sign (#) is used with this entry because of evidence that congenital nonprogressive cone-rod synaptic disorder (CRSD) is caused by mutation in the gene encoding calcium-binding protein-4 (CABP4; 608965) on chromosome 11q13. Description Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014). Clinical Features Zeitz et al. (2006) studied 3 patients from 2 unrelated families who exhibited electroretinographic (ERG) findings consistent with congenital stationary night blindness (CSNB; see 310500). The first family consisted of the index patient and his affected brother, 4 unaffected sibs, and their unaffected parents.

A number sign (#) is used with this entry because of evidence that autosomal dominant congenital stationary night blindness-2 (CSNBAD2) is caused by heterozygous mutation in the PDE6B gene (180072) on chromosome 4p16. For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Rambusch (1909) described a large Danish kindred with autosomal dominant congenital stationary night blindness (CSNB). The ancestor of the family was a farmer born about 1660 in northern Jutland. At the time of the report by Rosenberg et al. (1991), the pedigree comprised more than 200 affected persons in 11 generations.

A number sign (#) is used with this entry because of evidence that type 2 (incomplete) X-linked congenital stationary night blindness is caused by mutation in the retina-specific calcium channel alpha-1-subunit gene (CACNA1F; 300110). Aland Island eye disease (300600), which has a similar phenotype, is caused by mutation in the same gene. For a general phenotypic description and discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features X-linked congenital stationary night blindness is a nonprogressive retinal disorder characterized by decreased visual acuity and loss of night vision. Bergen et al. (1995) stated that X-linked CSNB (CSNBX) is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease.

A number sign (#) is used with this entry because of evidence that congenital stationary night blindness type 1H (CSNB1H) is caused by homozygous or compound heterozygous mutation in the GNB3 gene (139130) on chromosome 12p13. Description Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). Clinical Features Vincent et al. (2016) studied a 3-generation Lebanese-Armenian kindred in which 2 brothers and their maternal aunt exhibited mildly reduced vision and normal fundus appearance; the 11-year-old younger brother and the 48-year-old aunt also had childhood-onset night blindness.

X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina . People with this condition typically experience night blindness and other vision problems, including loss of sharpness ( reduced visual acuity ), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness.

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

A number sign (#) is used with this entry because X-linked complete congenital stationary night blindness (CSNB1A) can be caused by mutation in the NYX gene (300278), which encodes a small leucine-rich proteoglycan (SLRP) known as nyctalopin. Description Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by Riazuddin et al., 2010).

Overview Delirium is a serious change in mental abilities. It results in confused thinking and a lack of awareness of someone's surroundings. The disorder usually comes on fast — within hours or a few days. Delirium can often be traced to one or more factors. Factors may include a severe or long illness or an imbalance in the body, such as low sodium. The disorder also may be caused by certain medicines, infection, surgery, or alcohol or drug use or withdrawal. Symptoms of delirium are sometimes confused with symptoms of dementia.

A number sign (#) is used with this entry because congenital disorder of glycosylation type Ia (CDG Ia, CDG1A) is caused by homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 (PMM2; 601785) on chromosome 16p13. Description Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., CDG2A, 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. CDG1A is the most common form of CDG and was the first to be characterized at the molecular level (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002).

Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive , seizures, and distinctive facial features. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. The most severe cases of CDG-Ia are characterized by hydrops fetalis .

PMM2 deficiency Other names Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency [1] ,Jaeken Syndrome, PMM2-CDG , CDG1a PMM2 protein PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2 . It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “ congenital disorders of glycosylation ” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide. Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 References Signs and symptoms [ edit ] Failure to thrive (FTT) - Failure to gain weight and grow at the expected rate. [2] Cerebellar hypoplasia - Small cerebellum, which is the part of the brain that coordinates movement. [3] [4] [5] [6] [7] Liver disease - Elevated liver function tests. [8] Pericardial effusion - Fluid around the heart. [9] Peripheral neuropathy (PN) - Impaired nerve impulse transmission to the legs. Patients do not respond well to reflex tests. [10] Strabismus - Crossed eyes, mainly presented as infantile Esotropia [11] Nystagmus - Involuntary eye movements caused by Cerebellar ataxia . [11] [12] Hypotonia - Weak muscle tone, commonly known as floppy baby syndrome. [13] Diagnosis [ edit ] PMM2 deficiency is diagnosed through genetic sequencing.

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2 -congenital disorder of glycosylation ( PMM2 -CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2 -CDG vary widely among affected individuals, sometimes even among members of the same family. Individuals with PMM2 -CDG typically develop signs and symptoms of the condition during infancy. Affected infants may have weak muscle tone (hypotonia), retracted (inverted) nipples, an abnormal distribution of fat, eyes that do not look in the same direction (strabismus), developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive). Infants with PMM2 -CDG also frequently have an underdeveloped cerebellum , which is the part of the brain that coordinates movement.

Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly ). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature.

Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder. Facial abnormalities that occur in MFDM include underdevelopment of the middle of the face and the cheekbones (midface and malar hypoplasia) and an unusually small lower jaw (mandibular hypoplasia, also called micrognathia). The external ears are small and abnormally shaped , and they may have skin growths in front of them called preauricular tags.

A number sign (#) is used with this entry because the Guion-Almeida type of mandibulofacial dysostosis (MFDGA) is caused by heterozygous mutation in the EFTUD2 gene (603892) on chromosome 17q21. Description Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate (summary by Lines et al., 2012). Clinical Features Guion-Almeida et al. (2000) reported 2 Brazilian boys with mental and growth retardation, microcephaly, trigonocephaly, preauricular skin tags, and cleft palate. Guion-Almeida et al. (2006) reevaluated these patients and reported 2 additional patients, a Brazilian boy and girl.

A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability. Epidemiology More than 100 cases have been reported to date in various ethnic groups. Clinical description Mandibulofacial dysostosis-microcephaly syndrome (MFDM) has a wide range of manifestations. Affected patients have malar and mandibular hypoplasia, sometimes with upper airway compromise at birth. Congenital or postnatal-onset microcephaly is found in 90 % of patients (rarely associated with epilepsy).

MYH9 -related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts ). The bleeding problems in people with MYH9 -related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets , which are small cells that normally assist with blood clotting. People with MYH9 -related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9 -related disorder are larger than normal.

May–Hegglin anomaly Other names Döhle leukocyte inclusions with giant platelets and Macrothrombocytopenia with leukocyte inclusions [1] Specialty Hematology May–Hegglin anomaly ( MHA ), is a rare genetic disorder of the blood platelets that causes them to be abnormally large. Contents 1 Presentation 2 Pathogenesis 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Presentation [ edit ] In the leukocytes, the presence of very small rods (around 3 micrometers), or Döhle-like bodies can be seen in the cytoplasm . [ citation needed ] Pathogenesis [ edit ] MHA is believed to be associated with the MYH9 gene. [2] The pathogenesis of the disorder had been unknown until recently, when autosomal dominant mutations in the gene encoding non-muscle myosin heavy chain IIA ( MYH9 ) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes . It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocyte inclusions, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract. [2] MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss). [3] Diagnosis [ edit ] This section is empty.

Munne et al. (1996) described the case of a 28-year-old woman with mild manifestations of IP2 and her daughter who showed classic features.

An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality. Epidemiology The birth prevalence is approximately 1/ 143,000. The female to male ratio is 20:1. Clinical description The disorder cutaneous findings typically present perinatally with an erythematous vesicular rash (bullous stage I) following BL: linear on extremities, swirled on trunk and head.

Rare X-linked dominant genetic disorder Not to be confused with Incontinentia pigmenti achromians . Incontinentia pigmenti Other names Bloch–Siemens syndrome, Bloch–Sulzberger disease, Bloch–Sulzberger syndrome, nelanoblastosis cutis, nevus pigmentosus systematicus [1] This condition is inherited in an X-linked dominant manner. Specialty Medical genetics Incontinentia pigmenti ( IP ) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. [1] The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails.

Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin . This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths . In early childhood, the skin develops grey or brown patches (hyperpigmentation ) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs.

Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. Most people with IP have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems.

Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Epidemiology Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is underdiagnosed and its true incidence remains unknown. Clinical description The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing.

22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome disorder caused by the loss ( deletion ) of a small piece of chromosome 22 . The deletion occurs near the end of the long arm (or q arm) of the chromosome at a location designated as q13.3. Not everyone with 22q13.3 deletion syndrome will have the same medical, developmental, or behavioral problems (features). Common problems include low muscle tone (hypotonia), intellectual disability, developmental delays especially delayed or absent speech , and tendency to overheat. Children may be tall and thin. Differences in other physical features are usually mild and may include long eyelashes, down slanting eyes, large ears, ears without normal folding, bulb-like tip of nose, pointed chin, large hands, and toenails that flake off as infants and then become hard and brittle as age.

22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors.

A number sign (#) is used with this entry because Phelan-McDermid syndrome (PHMDS) can be caused by a heterozygous contiguous gene deletion at chromosome 22q13 or by mutation in the SHANK3 gene (606230), which is located within the minimum critical region. Description Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see 209850), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007). Clinical Features Phelan et al. (2001) compared the phenotypes of 37 patients with 22q13 deletion syndrome with those of 24 published cases. All 37 patients presented with global developmental delay and absent or severely delayed expressive speech.

Interest in SHANK3 grew as it became associated with autism spectrum disorder (ASD) and Schizophrenia . [18] Since then, twelve other genes on 22q13 ( MAPK8IP2 , [19] CHKB , [20] SCO2 , [21] SBF1 , [22] PLXNB2 , [23] MAPK12 , [24] PANX2 , [25] BRD1 , [26] CELSR1 , [27] WNT7B , [28] TCF20 [29] ) have been associated with autism spectrum disorder and/or Schizophrenia (see references below).

Proteus-like syndrome Specialty Medical genetics Proteus-like syndrome ( PLS ) is a condition similar to Proteus syndrome , but with an uncertain cause. [1] See also [ edit ] List of cutaneous conditions PTEN (gene) Multiple hamartoma syndrome References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . External links [ edit ] Classification D OMIM : 158350 GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS) v t e Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1 G protein Heterotrimeic cAMP / GNAS1 : Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF : SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3 MAP kinase Cardiofaciocutaneous syndrome Other kinase / phosphatase Tyrosine kinase BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency Serine/threonine kinase RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4 / WNK1 Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis Signal transducing adaptor proteins EDARADD EDARADD Hypohidrotic ectodermal dysplasia SH3BP2 Cherubism LDB3 Zaspopathy Other NF2 Neurofibromatosis type II NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2 See also intracellular signaling peptides and proteins This dermatology article is a stub . You can help Wikipedia by expanding it . v t e

Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas ; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.[9723]

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease. Epidemiology The prevalence is unknown. Clinical description Proteus-like syndrome has the clinical features of Proteus syndrome but lacks some of the required criteria necessary for diagnosis. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Etiology Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma tumor syndrome (PHTS; see this term) group. To date, mutations in AKT1 have not been reported in Proteus-like patients.

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia. Epidemiology It represents around 90% of all cases of GD with an estimated prevalence of 1/100,000 in the general population. Clinical description Although the disease can be diagnosed at any age, half of patients are under the age of 20 at diagnosis. The clinical presentation is heterogeneous with occasional asymptomatic forms. It is characterized by the association of frequent asthenia, growth retardation or delayed puberty, splenomegaly (90% of cases) that may be complicated by splenic infarctions (sometimes superinfected), hepatomegaly (80% of cases) and in rare cases can progress towards fibrosis followed by cirrhosis.

Gaucher disease type 1 (GD1) is the most common form of Gaucher disease . Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow. Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system).

An extreme developmental dental anomaly characterized by the complete absence of all teeth. Epidemiology The prevalence is unknown but it is extremely rare and usually only occurs as part of an associated syndrome such as X-linked hypohidrotic ectodermal dysplasia (X-linked HED; see this term). Etiology Genes found to be responsible for HED include EDA and EDAR and EDARADD . Diagnostic methods Clinical examination along with a panoramic radiograph (and intra-oral X-rays if needed) is performed when teeth eruption is delayed and teeth are then thought to be missing. In normal conditions all primary teeth and crypts of permanent first molars are visible on radiography at birth and permanent teeth crowns (except third molars) at 6 years of age.

Clinical Features Cramer (1947) and Ribble (1931) observed affected sisters, and Warr (1938) described parental consanguinity. The primary dentition was not affected and no associated abnormalities were noted. Gorlin (1979) knew of at least 8 reports of complete absence of the permanent dentition with the entire primary dentition present and erupted at a normal time. Gorlin (1979) and Gorlin et al. (1980) presented evidence of autosomal recessive inheritance, including multiple affected sibs and consanguineous parents. On the basis of 2 families in which both parents had pegged or missing maxillary lateral incisors (150400), Witkop (1987) concluded that agenesis of the permanent teeth can be an expression of the homozygous state of the mutated gene.

Anodontia Other names Anodontia vera Specialty Dentistry , medical genetics Anodontia is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth . It is divided into two subsections, complete absence of teeth or only some absence of teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias . Anodontia is usually part of a syndrome and seldom occurs as an isolated entity. There is usually no exact cause for anodontia. The defect results in the dental lamina obstruction during embryogenesis due to local, systemic and genetic factors.

Anodontia is a dental condition characterized by complete absence of teeth. The primary (baby) or permanent (adult) teeth may be involved. Anodontia is extremely rare when present in a pure form (without associated abnormalities). In most cases, the phenomenon is associated with a group of conditions called the ectodermal dysplasias . In these cases, abnormalities are also noted in the hair, nails, and sweat glands. Anodontia is an autosomal recessive condition. A specific gene has not yet been identified.

This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Premature heart beat" – news · newspapers · books · scholar · JSTOR ( March 2015 ) ( Learn how and when to remove this template message ) Premature heart beat A premature ventricular contraction marked by the arrow. Specialty Cardiology A premature heart beat is a heart rhythm disorder corresponding to a premature contraction of one of the chambers of the heart. Premature heart beats come in two different types, premature atrial contractions and premature ventricular contractions . Often they cause no symptoms but may present with fluttering in the chest or a skipped beat.

Ectopic beat Other names Cardiac ectopy Specialty Cardiology Ectopic beat is a disturbance of the cardiac rhythm frequently related to the electrical conduction system of the heart , in which beats arise from fibers or group of fibers outside the region in the heart muscle ordinarily responsible for impulse formation ( i.e. , the sinoatrial node ). An ectopic beat can be further classified as either a premature ventricular contraction , or a premature atrial contraction . [1] Some patients describe this experience as a "flip" or a "jolt" in the chest, or a "heart hiccup", while others report dropped or missed beats. Ectopic beats are more common during periods of stress, exercise [2] or debility; they may also be triggered by consumption of some food like alcohol, strong cheese, or chocolate. It is a form of cardiac arrhythmia in which ectopic foci within either ventricular or atrial myocardium , or from finer branches of the electric transduction system, cause additional beats of the heart . Some medications may worsen the phenomenon. Ectopic beats are considered normal and are not indicative of cardiac pathology.