UBE3B

This website provides information on patients with a mutation in the UBE3Bgene, including clinical data, molecular data, management and research options.

UBE3B-related disorder, also known as Kaufman Oculocerebrofacial Syndrome (KOS) or, historically, Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID), is caused by biallelic mutations in the UBE3Bgene. It is a multisystem disorder characterized by a distinctive craniofacial appearance (blepharophimosis, ptosis, sparse and laterally broad eyebrows, micrognathia, and low-set or malformed ears), progressive microcephaly, global developmental delay and intellectual disability, and generalized hypotonia. Feeding and respiratory difficulties are common in infancy. Cardiac, renal, ophthalmologic, and skeletal anomalies may also be observed in some individuals, but do not occur in all patients with a pathogenic mutation in the UBE3Bgene.

This website was created to share and collect information about clinical characteristics, management, and research projects to gather more knowledge and provide better treatment of patients with a mutation in the UBE3Bgene.

Professor Maha S. Zaki, MD, PhD, Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt, dr_mahazaki@yahoo.com
Mohamed G. Ayad, MD, MSc, Assistant Lecturer, Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt, drmohamedgmalayad@gmail.com