IllnessKBG syndrome

NGS +

KBG syndrome affects multiple body systems. Abnormal facial features include macrodontia, brachycephaly, triangular face, hypertelorism, synophris, long philtrum and thin upper lip. Skeletal anomalies concern delayed bone age and often brachydactyly. The slow physical and mental development is accompanied by hyperactivity or autism spectrum disorder including mental retardation. Less common are hearing loss, seizures and heart defects. KBG syndrome is inherited in an autosomal dominant manner, but 2/3 of the mutations occur de novo, with deletions and insertions diagnosed as causative in nearly 30% of cases. The proportion of patients with clinical KBG findings without detectable ANKRD11 gene mutation is unknown. Therefore, a negative molecular genetic result does not represent exclusion of the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK487886/

• Macrodontia, mental retardation, characteristic facies, short stature, skeletal anomalies (ANKRD11)
• Short stature-facial + skeletal anomalies-intellectual disability-macrodontia syndrome (ANKRD11)