KBG syndrome is a rare disorder that affects several body systems. KBG syndrome is a rare disorder that affects a number of body systems. Background. KBG syndrome have been reported worldwide [7]. How-ever, it is likely that this syndrome is underdiagnosed, since many of the features are mild and do not specic to this syndrome [2]. Tracy Lester (Genetics laboratory, Oxford UK) Green List (high evidence) KBG syndrome - EEG abnormalities, with or without seizures, have been reported in about 50% of affected individuals [Skjei et al 2007]. 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. ORIGINAL ARTICLE Clinical and Genetic Aspects of KBG Syndrome Karen Low,1* Tazeen Ashraf,2 Natalie Canham,3 Jill Clayton-Smith,4,5 Charu Deshpande,2 Alan Donaldson,1 Richard Fisher,6 Frances Flinter,2 Nicola Foulds,7 Alan Fryer,8 Kate Gibson,9 Ian Hayes,10 Alison Hills,11 Susan Holder,3 Melita Irving,2 Shelagh … Consent for genetic testing was obtained at the time of sample collection. Other clinical features included short stature, conductive hearing loss, recurrent middle ear infection, palatal abnormalities, and feeding difficulties. We provide the most comprehensive source of reliable and current information about this condition and we invite you to visit our pages to find the … The type of epilepsy is variable. KBG syndrome (MIM # 148050) is a rare autosomal dominant genetic disease that was first described by Herrmann in 1975 [].The typical phenotypes include intellectual disability, developmental delay, macrodontia of the upper central incisors, characteristic craniofacial features, hearing loss, skeletal abnormalities, … Keywords: KBG syndrome, ANKRD11 intragenic duplication, Low-level mosaicism, Genotype–phenotype correlations Background least four out of eight major criteria, namely macrodon- KBG syndrome (OMIM 148050) is a rare genetic disorder tia, typical gestalt, neurological anomalies, delayed bone characterised by distinctive … The subtle facial features of KBG syndrome were recognizable in half the patients. I'm not an expert in Kbg syndrome but I have read the following: - it is quite rare syndrome, it has been reported in apprx 46 people to date - it is usually not associated with severe medical complications - follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation (with particular regard to … We recognized a new feature of a wide anterior fontanelle with delayed closure in 22%. "KBG" represents the surname initials of the first families diagnosed with the disorder. Barth Syndrome UK is a well-established community of families, medical professionals, scientists, donors and volunteers with links to other affiliates all around the world. In the TS group, a Clinical Geneticist in the UK (or New Zealand in one case) had suspected the diagnosis of KBG syndrome based on clinical features and sent a DNA sample to Bristol Genetics Laboratory for ANKRD11 analysis. 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). Age of onset can range from infancy to the teenage years [Low et al 2016]. e genetic causes of KBG syn-drome include single nucleotide variants and small indels of ANKRD11 or microdeletions of 16q24.3 involving