ALLMedicine™ Kabuki Syndrome Center

Apr 7th, 2022 - Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and...

Apr 2nd, 2022 - The recessive mutant mouse bate palmas (bapa) arose from N-ethyl-N-nitrosourea mutagenesis. Previous studies of our group revealed some behavioral impairments and a mutation in the lysine (K)-specific methyltransferase 2D (Kmt2d) gene. Because mut...

Jan 22nd, 2022 - Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of...

Jan 20th, 2022 - Kabuki syndrome (KS) is a neurodevelopmental disorder characterized by hypotonia, intellectual disability, skeletal anomalies, and postnatal growth restriction. The characteristic facial appearance is not pathognomonic for KS as several other cond...

Jan 19th, 2022 - Pathogenic variants in KMT2D are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth. Seventy pe...

Aug 9th, 2017 - All Things Kabuki , an organization providing awareness, education, and support on behalf of those affected by Kabuki syndrome, is NORD’s newest member organization. Read NORD’s Rare Disease Database report on Kabuki syndrome.

Aug 17th, 2021 - Overview What is a horseshoe kidney? Horseshoe kidney, also called renal fusion, is when two kidneys are fused or joined together. They form a shape like a horseshoe. A horseshoe kidney is also in a different location compared to two typical kidne...