Introduction to Robinow-Sorauf Syndrome Robinow-Sorauf syndrome is a rare condition with similarities to Saethre-Chotzen syndrome, […]
Understanding Roch-Leri Mesosomatous Lipomatosis
Overview of Roch-Leri Mesosomatous Lipomatosis Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder […]
Understanding Robinson–Miller–Bensimon Syndrome: Symptoms, Diagnosis, and Management
Introduction to Robinson–Miller–Bensimon Syndrome Robinson–Miller–Bensimon syndrome is a rare genetic disorder characterized by deafness and […]
Understanding Chromosome 14 Trisomy Mosaic⁚ Causes and Symptoms
Causes of Chromosome 14 Trisomy Mosaic Chromosome 14 Trisomy Mosaic occurs when there is an […]
Understanding Roberts Syndrome: Causes, Symptoms, and Diagnosis
Introduction to Roberts Syndrome Roberts syndrome (RBS) is a rare autosomal recessive developmental disorder caused […]
Overview of Camptodactyly and Fibrous Tissue Hyperplasia
Overview of Camptodactyly Camptodactyly is a condition characterized by permanent flexion contractures of one or […]
Understanding Pityriasis Rubra Pilaris: Symptoms, Subtypes, and Treatment Options
Article Plan⁚ Disease ‒ Pityriasis Rubra Pilaris Overview of Pityriasis Rubra Pilaris Pityriasis rubra pilaris […]
Understanding Pinheiro-Freire-Maia-Miranda Syndrome: Symptoms, Genetic Basis, and Management
Introduction Pinheiro-Freire-Maia-Miranda syndrome, also known as Trichodermodysplasia-dental alterations syndrome, is a rare genetic disorder affecting […]
Understanding Mandibulofacial Dysostosis with Microcephaly (MFDM) and its Associated Syndromes
Introduction Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia, microcephaly, intellectual […]
Understanding Pinsky-Di George-Harley Syndrome: Clinical Features, Diagnosis, and Genetics
Introduction Pinsky–Di George–Harley syndrome is a rare congenital anomaly characterized by immunodeficiency‚ abnormal facies‚ congenital […]