Tag: short stature

  • Murk Jansen Metaphyseal Chondrodysplasia

    Murk Jansen Metaphyseal Chondrodysplasia: Definition and Description of Murk Jansen Metaphyseal Chondrodysplasia: Murk Jansen Metaphyseal Chondrodysplasia is a rare genetic disorder characterized by abnormal development of the bones and cartilage. This form of chondrodysplasia typically presents with metaphyseal widening, short stature, and skeletal deformities. It is inherited in an autosomal recessive pattern, indicating that both…

  • Achondroplasia

    Achondroplasia Definition and Description of Achondroplasia Achondroplasia is a genetic disorder characterized by an abnormality in bone growth, leading to dwarfism. It is one of the most common forms of skeletal dysplasia and is caused by mutations in the FGFR3 gene (fibroblast growth factor receptor 3). This condition typically results in disproportionate short stature, with…

  • Abercrombie Syndrome

    Abercrombie Syndrome Definition and Description of Abercrombie Syndrome Abercrombie Syndrome, also known as Abercrombie hypoplasia, is a rare genetic disorder characterized by a variety of developmental anomalies. Initially identified by the medical community, this syndrome primarily affects the development of skeletal structures and muscular systems. Patients with Abercrombie Syndrome may exhibit distinctive facial features, short…