Tag: skeletal anomalies

  • Nail Patella Syndrome

    Nail Patella Syndrome: Definition and Description of Nail Patella Syndrome: Nail Patella Syndrome (NPS) is a rare genetic disorder characterized by abnormalities in the nails, bones, and kidneys. This condition is typically inherited in an autosomal dominant manner, which means only one copy of the mutated gene from an affected parent can cause the disorder…

  • Morgagni-Turner-Albright Syndrome

    Morgagni-Turner-Albright Syndrome: Definition and Description of Morgagni-Turner-Albright Syndrome: Morgagni-Turner-Albright Syndrome (MTAS) is a rare genetic disorder characterized by a combination of various endocrine, skeletal, and other physical anomalies. This syndrome typically manifests from a mutation in the GNAS gene, leading to the development of symptoms related to fibrous dysplasia of bone, precocious puberty, and hormonal…