Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson VariantSymptoms, Doctors, Treatments, Advances & More
Learn About Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
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.
The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.
The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature.
This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family.
Indian River Health Services Inc
Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.
Reading Hospital
Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine.
Advocate Children's Medical Group Developmental
Brad Angle is a Medical Genetics provider practicing medicine in Park Ridge, Illinois. Dr. Angle is rated as an Advanced provider by MediFind in the treatment of Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses KBG Syndrome, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Micrognathia, and Cortical Dysplasia. Dr. Angle is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics. Dr. Angle is currently accepting new patients.
Published Date: February 01, 2013
Published By: National Institutes of Health