MFRG is a rare genetic disorder that can cause various clinical features. Some of the most common features reported in the literature include:
• A smaller than normal head (microcephaly)
• Unusual facial features such as arched eyebrows, shallow ridges above the eyes, widely spaced eyes, eyes that slant upwards, a nose with a flattened bridge, cleft lip/palate, and a high-arched palate
• Unilateral renal agenesis (one kidney does not develop)
• Ambiguous genitalia
• Brain anomalies such as a missing or abnormal corpus callosum (the part of the brain that connects the two hemispheres), lissencephaly (a smooth brain surface), and seizures
• Heart abnormalities such as ventricular septal defect (a hole in the wall separating the two lower chambers of the heart), atrial septal defect (a hole in the wall separating the two upper chambers of the heart), and patent ductus arteriosus (a blood vessel that should have closed after birth but remains open), hypoplastic right ventricle (underdeveloped right side of the heart)
• Skeletal abnormalities such as contractures of upper and lower extremities, overlapping fingers, bilateral talipes equinovarus (clubfoot), and preaxial/postaxial polydactyly (extra fingers or toes)
• Hypotonia (low muscle tone)
• Intrauterine growth retardation (poor growth of the fetus while in the womb)
CTU2