KBG syndrome
Zuletzt aktualisiert 2. Aug 2023
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
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.
Beschreibung
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. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively) and flat feet (pes planus). Most affected individuals are shorter than average from birth.
Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Most people with this condition have neurodevelopmental disorders, such as hyperactivity; anxiety; or autism spectrum disorder, which is characterised by impaired communication and social interactions.
Less common features of KBG syndrome include hearing loss, seizures, and heart defects.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies
Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome
Related patient information and medicines
Patient information leaflet
Guillain-Barré-Syndrom
Guillain-Barré-Syndrom affects the nerves of the limbs and body and is usually triggered by an infection. The main symptom is sudden onset weakness of the muscles that are supplied by the affected nerves. What is Guillain-Barré syndrome. Guillain-Barré syndrome (GBS) is a disease that affects nerves throughout the body and limbs. It is usually.
Patient information leaflet
Fetales Antikonvulsivum-Syndrom
Fetales Antikonvulsivum-Syndrom (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
Charles-Bonnet-Syndrom
Charles Bonnet syndrome is a common condition experienced by people who are losing, or have lost, their sight. It involves seeing things which are not really there (having visual hallucinations). The hallucinations are most marked in low light or when relaxing and are often complicated scenes involving faces, children and wild animals. People.
Patient information leaflet
Klinefelter-Syndrom
Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY. Betwee... It is a sex chromosome trisomy. Instead of being 46, XY, men or boys with KS are usually 47, XXY. Dr Harry F. Klinefelter first described this syndrome in the USA in 1942. The condition.
Patient information leaflet
Ehlers-Danlos-Syndrom
Der Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
Cauda-equina-Syndrom
Cauda equina syndrome is a particularly serious type of nerve root problem. This is a rare disorder where there is pressure on the nerves at the very bottom of the spinal cord. The collection of nerves at the bottom of the spinal cord is called the cauda equina because it is said to look like a horse's tail. Cauda equina means horse's tail in.
Weiterführende Lektüre und Referenzen
- KBG syndrome; MedlinePlus, National Library of Medicine.
- Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell. 2015 Jan 12;32(1):31-42. doi: 10.1016/j.devcel.2014.11.031. Epub 2014 Dec 31.
- Kim HJ, Cho E, Park JB, Im WY, Kim HJ. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. Eur J Med Genet. 2015 Feb;58(2):86-94. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20.
- Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131.
- Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26.
- Morel Swols D, Foster J 2nd, Tekin M. KBG syndrome. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8.
- Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26.
- Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21.
- Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjorgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
2. Aug 2023 | Neueste Version
1 Jan 2015 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.