Frontometaphyseal Dysplasia

Frontometaphyseal Dysplasia

Frontometaphyseal dysplasia is a rare genetic disorder characterised by skeletal abnormalities, including significant thickening of cranial bones and metaphyseal dysplasia, leading to limb deformities. This condition results from mutations in the FLNA gene. Symptoms often include hearing loss, joint stiffness, and distinctive facial features. Diagnosis involves genetic testing and clinical evaluation.