The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. 1975;11:7-18.-Low K, Ashraf T, Canham N, et al. A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities. Our partnerships do not influence our editorial policy, © everythingpossible / Fotolia © Orphanet version 5.44.0 - Last updated: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). The ORPHANET is a database dedicated to providing information on rare diseases and orphan drugs. La diagnosi definitiva viene posta di solito solo dopo l'eruzione degli incisivi centrali superiori permanenti, all'età di 7-8 anni, quando il trattamento delle possibili anomalie congenite avrebbe già dovuto essere pianificato. È utile effettuare, al momento della diagnosi, una valutazione completa dello sviluppo e, in presenza di ritardi, avviare un programma di stimolazione. La sindrome KBG è una malattia rara caratterizzata da dismorfismi facciali tipici, macrodonzia degli incisivi centrali superiori, anomalie scheletriche (soprattutto costo-vertebrali) e ritardo dello sviluppo. In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Tutte le informazioni presenti nel sito non sostituiscono in alcun modo il giudizio di un medico specialista, l'unico autorizzato ad effettuare una consulenza medica ed esprimere un parere medico. Most affected people are the first person in their family to carry the gene change, but a small proportion have inherited it from a parent, who is likely to have features of KBG syndrome. KBG syndrome. Expert reviewer(s):  Pr Nicole PHILIP | ITHACA* - Dr Florence RICCARDI | ITHACA* - Last update: September 2020, Our Website does not host any form of advertising Some were able to live completely independently, while others required some … Management and follow-up include educational support, surveillance of growth and puberty, screening for hearing loss (otitis media), educational and speech therapy, and treatment of seizures when needed. Seizures, feeding difficulties, recurrent otitis media/hearing loss, palatal abnormalities and precocious puberty are notable additional features associated with KBGS. The prevalence is unknown. Caratteristiche meno comuni sono la sindattilia cutanea, il collo corto con pterigio, il criptorchidismo, l'ipoacusia, le anomalie del palato, lo strabismo e le cardiopatie congenite. Birth Defects Orig Artic Ser. Differential diagnosis includes Cornelia de Lange syndrome, cleidocranial dysplasia, Robinow syndrome and 22q11.2 deletion syndrome. Sequenza di DiGeorge, 22q11DS, Sindrome velo-cardio-facciale, Monosomia 22q11, Microdelezione 22q11.2, Sindrome da anomalie facciali e troncoconali, CATCH 22, Sindrome di Sedlackova, Sindrome di Shprintzen, Sindrome da delezione 22q11.2, Sindrome di Takao, Sindrome Cardiofacciale di Cayler The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Currently, KBG Syndrome is not preventable, since it may be a genetic disorder. Additional investigations depends on the clinical presentation. The KBG syndrome – a syndrome of short stature, characteristicfacies, mental retardation, macrodontia and skeletal anomalies. The treatment is usually given to manage the signs and symptoms and any complications that develops. People with KBG syndrome are more likely to KBG syndrome is caused by changes (mutations) in or a deletion of the ANKRD11 gene on chromosome 16 (band q24.3). Description. Le caratteristiche cliniche osservate in più della metà dei pazienti sono la bassa statura, le anomalie elettroencefalografiche (con o senza crisi epilettiche) e l'impianto anomalo dei capelli. Orphanet J Rare Diseases 2006; I: 50, doi: 10.1186/1750-1172-I-50 - Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C et al. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. saranno accettati solo i commenti finalizzati al miglioramento della qualità e dell'accuratezza delle informazioni presenti sul sito di Orphanet. At diagnosis, systematic echocardiogram, palatal assessment, vision, hearing and dental assessment, pediatric assessment for developmental delay, autism spectrum disorders and behavioral anomalies are recommended. To date, KBG syndrome has been reported in 45 patients. 3. Fino ad oggi, la sindrome KBG è stata descritta in 45 pazienti. Attualmente la diagnosi si basa solo sul quadro clinico, in quanto l'eziologia non è nota. riportato in letteratura, sottolineando la prevalente buona prognosi della epilessia in questa sindrome. Rey-Osterrieth complex figure: Normative values in an Italian population sample. March, 2011; 26(4):691-698. https, . More than half had jobs and were self-sufficient [2, 3]. El Centro de Información sobre Enfermedades Genéticas y Raras (Genetic and Rare Diseases Information Center, GARD) ayuda a encontrar información útil sobre enfermedades genéticas y raras y recursos relevantes, como dónde encontrar ayuda financiera, organizaciones de apoyo o estudios de investigación.GARD tiene especialistas en información que pueden responder a sus preguntas acerca … Mise-à-jour mars 2017 KBG syndrome. , Mehdorn HM, Kupsch A, Volkmann J, and Krauss JK. The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. KBG syndrome is a rare disorder that affects several body systems. 2019 May;10(3):130-138. Long-term follow-up of deep brain stimulation for Meige syndrome. 2016 [Epub ahead of print]. ANKRD11 is one of the most frequently muted gene in patients with neurodevelopmental disorders diagnosed by whole exome sequencing. Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. HOOM is a module that qualifies the annotation between a clinical entity and phenotypic abnormalities according to a frequency and by integrating the notion of diagnostic criterion. CHE COS'È La sindrome KBG è stata descritta per la prima volta nel 1975 in 7 pazienti appartenenti a 3 diverse famiglie, che presentavano associazione di bassa statura e lentezza nella crescita, denti incisivi superiori particolarmente larghi e ritardo di sviluppo psicomotorio e cognitivo di entità variabile. 1975;11: 7–18. KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. Tutti gli altri commenti potranno essere inviati alla nostra email di contatto. Mol Syndromol. Orphan designation(s) and orphan drug(s) (0). Clinical and genetic aspects of KBG syndrome. KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3. Height below the 10th centile is observed in about two-thirds of cases. Birth Defects. Its access is free of charge. New Orphanet summary reviewed by ITHACA : KBG syndrome KBG syndrome is A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, … Orphanet J Rare Dis 1:50. mechanisms that underlie activity-dependent plasticity [Sirmaci et al., 2011]. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Alimentation kbg par skynou » Lun 7 Déc 2020 16:39 1 Réponses 254 Vus Dernier message par Modérateur Mar 8 Déc 2020 11:31; Recherche personnes connaisant ce syndrome pour échanger 1, 2, 3 par gb35 » Lun 3 Avr 2017 18:04 23 Réponses 18745 Vus Dernier message par Cathy11 Ven 1 … Most cases occur sporadically due to de novo mutations. 1975;11:7-18.-Low K, Ashraf T, Canham N, et al. BG syndrome (KBGS) manifests in childhood with global developmental delay with short stature, mild-to-moderate intellectual disability, characteristic facies, macrodontia of the permanent upper central incisors and skeletal anomalies. The documents contained in this web site are presented for information purposes only. Lyons MK, Birch BD, Hillman RA, Boucher OK, and Evidente VG. Despite the history of developmental delay, many patients grow into autonomous adults. -Hermann J, Pallister PD, Tiddy W, Optiz JM. In seguito, il trattamento e la presa in carico devono comprendere l'EEG, la valutazione ortodontica completa, l'esame dello scheletro con particolare attenzione alle curvature del rachide dorsale e alla asimmetria degli arti, l'esame oculistico e dell'udito. BG syndrome (KBGS) manifests in childhood with global developmental delay with short stature, mild-to-moderate intellectual disability, characteristic facies, macrodontia of the permanent upper central incisors and skeletal anomalies. 2021-03-09. Cognitive: KBG syndrome can be quite variable in regard to the cognitive abilities of affected individuals. Since then, 100 cases have been described with the expansion of the clinical phenotype. Am J Med Gen Part A 2016 ; 170A :2835-46. Developmental delay includes delayed motor milestones and markedly delayed speech and is almost always present in all patients. KBGS is caused by loss-of function alterations (pathogenic variants and copy number variations) affecting the ANKRD11 gene (16q24.3) which encodes ankyrin repeat domain-containing protein 11. Le nostre partnership non influenzano il nostro piano di azione in campo editoriale, © everythingpossible / Fotolia © Orphanet versione 5.44.0 - Ultimo aggiornamento: More than 150 cases have been reported to date. Orphanet J Rare Dis. 2021-03-09. The hallmark feature, macrodontia, is observed in about 80% of cases; additional dental findings include oligo- or hypodontia, premature teeth loss in adults and enamel hypoplasia. The most frequent skeletal anomalies are brachydactyly and fifth finger clinodactyly. The diagnosis is established by cytogenetic and molecular studies including a-CGH (array-comparative genome hybridization), targeted sequencing, gene panel, whole exome or genome sequencing. There have been no reports of regression. Scarano E et al. Intra-familial variability of the phenotype has been noted in familial cases. Saranno visualizzati solo i commenti scritti in inglese o italiano. 2002. [3, 12]. Fino ad oggi, la sindrome KBG è stata descritta in 45 pazienti. There is no cure for KBG Syndrome, since it is a genetic condition. 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). Cerca "SINDROME KBG" sul sito orpha.net Ottenere altre informazioni Per ottenere maggiori informazioni, o per assistenza telefonare al numero verde regionale gratuito 800 880101 , attivo dal lunedì al venerdì dalle 9.00 alle 18.00. Management is symptom-based and requires a multidisciplinary approach. KBG syndrome is a rare neur odevelopmental disorder characterized by intellectual disability, skeletal anomalies, short statur e, craniofacial dysmorphism, and macrodontia. ANKRD11 also interacts with both p160 coactivators Caffarra P, Vezzadini G, Dieci F, Zonato F, Venneri A. Sequence variants and/or copy number variants (deletions/duplications) within the ANKRD11 gene will be detected with >99% sensitivity. 2. Clinical and genetic aspects of KBG syndrome. Tollaro I, v Bassarelli, Calzolari C, Franchini F, Giovannucci Uzielli ML, Vieri PL. How can KBG Syndrome be Prevented? However, the number and severity of symptoms can vary. Clinical and genetic aspects of KBG syndrome. Behavioral disturbances including hyperactivity, aggressiveness, attention deficit and autism spectrum disorders are recognized as constant clinical features. Bibliografia 1. -Hermann J, Pallister PD, Tiddy W, Optiz JM. El síndrome de KBG es una enfermedad rara caracterizada por una dismorfia facial típica, macrodoncia de los incisivos centrales superiores, anomalías esqueléticas (principalmente costovertebrales) y un retraso del desarrollo. The KBG syndrome – a syndrome of short stature, characteristicfacies, mental retardation, macrodontia and skeletal anomalies. (0). "KBG" represents the surname initials of the first families diagnosed with the disorder. La sindrome KBG è una malattia rara caratterizzata da dismorfismi facciali tipici, macrodonzia degli incisivi centrali superiori, anomalie scheletriche (soprattutto costo-vertebrali) e ritardo dello sviluppo. For all other comments, please send your remarks via contact us. Mov Disord. Orphanet provides phenotypic annotations of the rare diseases in the Orphanet nomenclature using the Human Phenotype Ontology (HPO). Characteristic facial dysmorphism is prominent in about half of the patients, consisting of triangular face, wide eyebrows with mild synophrys, hypertelorism, prominent ears and nasal bridge with bulbous nasal tip, long flat philtrum and thin upper lip. Birth Defects. Revisore(i) esperto(i):  Dr Francesco BRANCATI - Pr Bruno DALLAPICCOLA - Dr Anna SARKOZY - Ultimo aggiornamento: Dicembre 2006, Il nostro Sito Web non ospita al suo interno alcun tipo di annuncio pubblicitario Most children will require support within the classroom, some requiring special education. This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of KBG Syndrome. 2017 Dec 19;12(1). The extent of ANKRD11 functions is yet to be determined, but it has been shown to be a crucial chromatin regulator that controls histone acetylation and gene expression during neural development. KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat‐containing cofactors. Morel Swals D, Foster J 2nd, Tekin M. KBG syndrome. Only comments written in English can be processed. Servizi web utili per le richieste personali, Un testo più recente su questa malattia è disponibile in inglese, Designazione/i Orfana/e e Farmaco/i Orfano/i Novel Mutations and Unreported Clinical Features in KBG Syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD … Syndrome KBG Définition Le syndrome KBG est une affection rare caractérisée par une dysmorphie faciale particulière, une macrodontie des incisives centrales supérieures, des anomalies squelettiques (principalement costo-vertébrales) et un retard de développement. Completing a regular high school without additional support appears to be rare; however some reported adults have completed a trade school. How is KBG Syndrome Treated? The pattern of inheritance is autosomal dominant. Am J Med Genet A. The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Hasta la fecha, el síndrome de KBG ha sido detectado en 45 pacientes. Diagnosis is based on clinical evaluation; there is no consensus on diagnostic criteria. 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).