A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.

Summary Clinical characteristics. Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. ... Diagnosis/testing. The diagnosis of BGS is established in a proband with typical clinical findings and/or the identification of biallelic pathogenic variants in RECQL4 by molecular genetic testing. ... Clinical Characteristics Clinical Description Since the original description of Baller-Gerold syndrome (BGS) by Baller [1950] and Gerold [1959], fewer than 40 individuals with BGS have been reported [Mégarbané et al 2000, Van Maldergem et al 2006, Debeljak et al 2009, Siitonen et al 2009, Piard et al 2015, Kaneko et al 2017]. BGS can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. ... Differential Diagnosis The major differential diagnosis for Baller-Gerold syndrome (BGS) comprises the allelic disorders Rothmund-Thomson syndrome and RAPADILINO syndrome (OMIM 266280).

A number sign (#) is used with this entry because of evidence that Baller-Gerold syndrome (BGS) is caused by homozygous or compound heterozygous mutation in the RECQL4 gene (603780) on chromosome 8p24. ... The finding of premature centromere separation pointed to Roberts syndrome rather than BGS as indicated by Huson et al. (1990). ... The patient of Gripp et al. (1999) illustrated the practical significance of the distinction. BGS has been thought to be an autosomal recessive disorder; the Saethre-Chotzen syndrome is an autosomal dominant disorder. ... Molecular Genetics Van Maldergem et al. (2006) pointed out the clinical overlap between the BGS and Rothmund-Thomson syndrome (RTS; 268400) and RAPADILINO syndrome (266280). Because patients with RAPADILINO syndrome and a subset of patients with RTS have mutations in the RECQL4 gene (603780), they reassessed 2 previously reported BGS families and found causal mutations in RECQL4 in both.

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). Epidemiology Around 30 cases have been reported but the prevalence of the syndrome is unknown. Clinical description Craniosynostosis and radial ray anomalies present at birth and are associated with facial dysmorphism (brachycephaly, ocular exophthalmia, frontal bossing, nasal hypoplasia, small mouth, ogival palate). An inconstant poikiloderma can appear during the first months of life. Delayed growth is nearly always present, usually around -4SD. Patellar aplasia or hypoplasia can be observed during childhood.

Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. ... In addition, they may have a characteristic skin condition that includes patches of discoloration and skin breakdown ( poikiloderma ). People with BGS may have growth delay and be at increased risk for certain types of cancer. Intelligence is usually normal. Most cases of BGS are caused by alterations in the RECQL4 gene.

Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead , and bulging eyes with shallow eye sockets (ocular proptosis ). Other distinctive facial features can include widely spaced eyes (hypertelorism ), a small mouth , and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly ) and malformed or absent thumbs .

Inheritance Eisen et al. (1997, 1998) studied 3,359 mono- and dizygotic U.S. male twin pairs who had served in the military and found that inherited factors explained between 37 and 55% of the prevalence of 5 individual symptoms of pathologic gambling (attempts to wind back losses at same place, gambling larger amounts than intended, repeated efforts to reduce or stop gambling, frequent preoccupation with gambling, and increase betting to maintain interest) from DSM-III-R for which data was informative.

urge to continuously gamble despite harmful negative consequences or a desire to stop Problem gambling Other names Ludomania, degenerate gambling, gambling addiction, compulsive gambling, gambling disorder Specialty Psychiatry , clinical psychology Symptoms Spending a lot of money and time in casino/sports betting, Video game addiction [1] Addiction and dependence glossary [2] [3] [4] [5] addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences addictive behavior – a behavior that is both rewarding and reinforcing addictive drug – a drug that is both rewarding and reinforcing dependence – an adaptive state associated with a withdrawal syndrome upon cessation of repeated exposure to a stimulus (e.g., drug intake) drug sensitization or reverse tolerance – the escalating effect of a drug resulting from repeated administration at a given dose drug withdrawal – symptoms that occur upon cessation of repeated drug use physical dependence – dependence that involves persistent physical– somatic withdrawal symptoms (e.g., fatigue and delirium tremens ) psychological dependence – dependence that involves emotional–motivational withdrawal symptoms (e.g., dysphoria and anhedonia ) reinforcing stimuli – stimuli that increase the probability of repeating behaviors paired with them rewarding stimuli – stimuli that the brain interprets as intrinsically positive and desirable or as something to approach sensitization – an amplified response to a stimulus resulting from repeated exposure to it substance use disorder – a condition in which the use of substances leads to clinically and functionally significant impairment or distress tolerance – the diminishing effect of a drug resulting from repeated administration at a given dose v t e Problem gambling is an urge to gamble continuously despite negative consequences or a desire to stop. ... These authors point out that social factors may be a far more important determinant of gambling behaviour than brain chemicals and they suggest that a social model may be more useful in understanding the issue. [29] For example, an apparent increase in problem gambling in the UK may be better understood as a consequence of changes in legislation which came into force in 2007 and enabled casinos, bookmakers, and online betting sites to advertise on TV and radio for the first time and which eased restrictions on the opening of betting shops and online gambling sites. [30] Pathological gambling is similar to many other impulse control disorders such as kleptomania . [31] According to evidence from both community- and clinic-based studies, individuals who are pathological gamblers are highly likely to exhibit other psychiatric problems concurrently, including substance use disorders , mood and anxiety disorders , or personality disorders . [32] Pathological gambling shows several similarities with substance abuse. ... Jackson and Shane A.Thomas a survey done from 1994–2008 in Tasmania gave results that gambling participation rates have risen rather than fallen over this period. [53] Prevalence [ edit ] Europe [ edit ] In Europe, the rate of problem gambling is typically 0.5 to 3 percent. [54] The "British Gambling Prevalence Survey 2007", conducted by the United Kingdom Gambling Commission, found approximately 0.6 percent of the adult population had problem gambling issues—the same percentage as in 1999. [55] The highest prevalence of problem gambling was found among those who participated in spread betting (14.7%), fixed odds betting terminals (11.2%), and betting exchanges (9.8%). [55] In Norway, a December 2007 study showed the amount of present problem gamblers was 0.7 percent. [56] With gambling addiction on the rise and across Europe in particular, the voices calling gambling a disease has been gaining grounds. ... PMID 25167843 . ^ "Problem Gaming" (PDF) . European Gaming and Betting Association . Retrieved April 4, 2012 . ^ a b Wardle, Heather; Sproston, Kerry; Orford, Jim; Erens, Bob; Griffiths, Mark; Constantine, Rebecca; Pigott, Sarah (September 2007).

Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage around the ribs. Specifically, people with Tietze syndrome have swelling of the cartilage that joins the upper ribs to the breastbone. This is called the costochondral junction. Signs and symptoms of this condition usually develop in people who are under the age of 40. Symptoms include mild to severe chest pain that may extend into the arms and shoulders. The chest, shoulders, and arms may also have redness and warmth. In some cases, Tietze syndrome may resolve on its own without treatment, while other people experience patterns of pain followed by some relief of pain.

Overview Costochondritis (kos-toe-kon-DRY-tis) is an inflammation of the cartilage that connects a rib to the breastbone (sternum). Pain caused by costochondritis might mimic that of a heart attack or other heart conditions. Costochondritis Costochondritis most commonly affects the upper ribs on the left-hand side of your body. Pain is often worst where the rib cartilage attaches to the breastbone (sternum), but it can also occur where the cartilage attaches to the rib. Costochondritis is sometimes known as chest wall pain syndrome, costosternal syndrome or costosternal chondrodynia.

Not to be confused with Tietz syndrome . 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: "Tietze syndrome" – news · newspapers · books · scholar · JSTOR ( August 2010 ) ( Learn how and when to remove this template message ) Tietze syndrome Other names Chondropathia tuberosa, costochondral junction syndrome Sternocostals and interchondral articulations. Anterior view. ( Costal cartilages visible on diagram.) Specialty Rheumatology Tietze syndrome (also called costochondral junction syndrome ) is a benign inflammation of one or more of the costal cartilages . [1] It was first described in 1921 by the German surgeon Alexander Tietze (1864–1927). [2] [3] Tietze syndrome is not the same as costochondritis . [4] Tietze syndrome is differentiated from costochondritis by swelling of the costal cartilages, which does not appear in costochondritis. Like costochondritis, it was at one time thought to be associated with, or caused by, a viral infection acquired during surgery.

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and abnormalities of the bones in the spine (the vertebrae). The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome.

A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. Epidemiology Saethre-Chotzen syndrome (SCS) prevalence ranges from 1/25,000 to 1/50,000 livebirths. Clinical description SCS has a variable spectrum of manifestations. Classic SCS presents at birth with synostosis of coronal (less commonly in conjunction with sagittal, metopic or lambdoid) sutures resulting in abnormal skull shape, facial asymmetry, low frontal hairline, ptosis, strabismus, tear duct stenosis and small ears with prominent crus. Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present. Intelligence is normal in most, but mild to severe developmental delay has been reported, primarily in cases with a large genomic deletion.

A number sign (#) is used with this entry because of evidence that the Saethre-Chotzen syndrome (SCS) is caused by heterozygous mutation in the TWIST1 gene (601622) on chromosome 7p21. See also Muenke syndrome (602849), which is caused by a mutation in the FGFR3 gene (P250R; 134934.0014) and has a similar overlapping phenotype to SCS. In addition, at least 1 individual with a phenotype of SCS has been described with a mutation in the FGFR2 gene (176943.0023). Description Saethre-Chotzen syndrome is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia.

Direct gene testing can determine whether an individual has SCS by testing the individual's blood for mutations in the TWIST1 gene. [7] Differential diagnosis [ edit ] Genetic testing allows for a definitive diagnosis because it allows similar conditions to be differentiated from each other based on which gene is mutated. [2] The following table contains conditions similar to SCS: Condition Symptoms Gene SCS Widely spaced eyes, low hairline, drooping eyes, interdigital webbing, deformed ears, crossed eyes, and downward sloping palpebral fissures TWIST1 Robinow-Sorauf syndrome Widely spaced eyes, deviated septum, flat skull posterior, deformed ears, crossed eyes, protruding jaw, and duplication of distal phalanx TWIST1 Muenke Syndrome Widely spaced eyes, enlarged head, hearing loss , flat cheeks, and low-set ears FGFR3 Crouzon Syndrome Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus , protruding chin, and short humerus and femur FGFR2 & FGFR3 Pfeiffer Syndrome Widely spaced eyes, underdeveloped jaw, beaked nose, hearing loss, and bulging eyes FGFR1 & FGFR2 Apert Syndrome Widely spaced eyes, prominent forehead, flat skull posterior, bulging eyes, low-set ears, flat or concave face, short thumb, and webbed fingers FGFR2 Isolated unilateral coronal synostosis Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS FGFR (any) Baller-Gerold syndrome (BGS) Short broad head, bulging eyes, flat forehead, poikiloderma , radial deformity with reduced number of digits, underdeveloped or missing thumb and radius, and growth retardation RECQL4 Treatment [ edit ] Bone segments that are removed in fronto-supraorbital advancement A child wearing a cranial remolding helmet after surgery.

Clinical Features Called the Worster-Drought (1974) syndrome because of the review of 200 cases by that physician, congenital suprabulbar paresis is characterized by selective weakness and impairment of movement of the orbicularis oris muscle, tongue and soft palate leading to dysarthria and troublesome drooling. In severe cases there is involvement of the pharyngeal and laryngeal muscles in early life. The child cannot protrude his tongue or move it within the mouth and is unable to round the lips to whistle or blow, but since other facial muscles are unaffected, he can smile normally and close his eyes. Worster-Drought (1974) noted familial occurrence in 12 of his 200 patients. Patton et al. (1986) described 4 affected males in 3 sibships of 3 generations of a family.

Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Epidemiology Prevalence is estimated at around 1/25,000-30,000, with a male predominance (male to female sex ratio: 3:1). Clinical description Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. In severe cases, the muscles of the pharynx and larynx are also involved. Epilepsy, learning difficulties and behavioral disturbances are common.

Worster-Drought syndrome (WDS) is a condition that affects the muscles of the mouth and throat; it is considered a type of cerebral palsy . The main symptoms of WDS include difficulties with drooling, swallowing and speaking. Some affected individuals may also have challenges with intelligence, behavior, or seizures. The cause of WDS is currently unknown, though it is believed that both genetic and environmental factors influence the development of this condition.

Summary Clinical characteristics. KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family. Diagnosis/testing. The diagnosis of KBG syndrome is confirmed in a proband by detection of either a heterozygous pathogenic variant in ANKRD11 or deletion of 16q24.3 that includes ANKRD11 . Management. Treatment of manifestations. Surgical corrections and/or speech therapy for palatal anomalies; nasogastric tube feeding in infants; pharmacologic treatment for gastroesophageal reflux disease; pressure-equalizing tubes and/or tonsillectomy/adenoidectomy for chronic otitis media; consideration of amplification for hearing loss; consideration of growth hormone therapy for short stature and medication to arrest puberty for premature pubertal development; standard treatment of seizure disorder, undescended testis in males, congenital heart defects, strabismus / refractive errors, and developmental disabilities.

A number sign (#) is used with this entry because of evidence that KBG syndrome (KBGS) is caused by heterozygous mutation in the ANKRD11 gene (611192) on chromosome 16q24. Description KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by Sirmaci et al., 2011). Sirmaci et al. (2011) noted that it is likely that KBG syndrome is underdiagnosed, since many of the features, including intellectual disability, are mild, and none of the features is a prerequisite for diagnosis. Clinical Features Herrmann et al. (1975) described 2 families in which multiple members had short stature, characteristic facies (telecanthus, wide eyebrows, brachycephaly), macrodontia, mental retardation, and skeletal anomalies (abnormal vertebrae, short metacarpals, short femoral necks). Male-to-male transmission occurred in 1 family. (The designation KBG syndrome follows Opitz's practice of using the initials of affected families' surnames.)

KBG syndrome Symptoms macrodontia , brachycephaly , hypertelorism , synophrys , long philtrum , thin upper lip KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. [1] Features include unusually large upper front teeth ( macrodontia ), wide, short skull ( brachycephaly ), widely spaced eyes ( hypertelorism ), and wide eyebrows that may grow together in the middle ( synophrys ). [2] The syndrome was first described by Herrmann in 1975 in three distinct families. [3] Herrmann proposed the name KBG syndrome after the initials of affected families last names. [4] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050 ^ "KBG syndrome" . Genetics Home Reference . U.S. Department of Health & Human Services, National Library of Medicine. ^ Herrmann J, Pallister PD, Tiddy W, Opitz JM (1975). "The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies". Birth Defects Original Article Series . 11 (5): 7–18. PMID 1218237 . ^ Morel Swols D, Foster J, Tekin M (December 2017). "KBG syndrome" . Orphanet Journal of Rare Diseases . 12 (1): 183. doi : 10.1186/s13023-017-0736-8 .

KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia ). Other distinctive facial features include a wide, short skull (brachycephaly ), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys ), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum ), and a thin upper lip . A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2.

KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically .

RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations . The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate ) or a high arched palate ; a long, slender nose; and dislocated joints. Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting.

A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. Epidemiology Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified. Clinical description Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. Etiology RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer. Differential diagnosis Differential diagnoses include Rothmund-Thomson syndrome (RTS) and Baller-Gerold syndrome (see these terms), which show considerable overlap with RAPADILINO syndrome.

Rapadilino syndrome Other names Radial and patellar aplasia, Radial and patellar hypoplasia Rapadilino syndrome has an autosomal recessive pattern of inheritance . Specialty Medical genetics RAPADILINO syndrome is an autosomal recessive disorder characterized by: [1] RA : ra dial ray defect PA : pa tellar aplasia , arched or cleft pa late DI : di arrhea , di slocated joints LI : li ttle (short stature), li mb malformation NO : slender no se, no rmal intelligence It is more prevalent in Finland than elsewhere in the world. [ citation needed ] It has been associated with the gene RECQL4 . [2] This is also associated with Rothmund-Thomson syndrome [3] and Baller-Gerold syndrome. [4] References [ edit ] ^ Kaariainen H, Ryoppy S, Norio R (1989). "Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations". Am J Med Genet . 33 (3): 346–351. doi : 10.1002/ajmg.1320330312 . PMID 2801769 . ^ Siitonen HA, Kopra O, Kääriäinen H, et al. (November 2003). "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases" .