Frydman-Cohen-Karmon Syndrome Frydman-Cohen-Karmon Syndrome, a rare genetic disorder, presents with intellectual disability, delayed development, seizures, […]
Understanding Xeroderma Pigmentosum, Type 3: Skin and Neurological Complications
Introduction Xeroderma pigmentosum (XP) is an extremely rare genetic syndrome characterized by extreme sensitivity to […]
Understanding Benign Myoclonic Epilepsy: Symptoms, Treatment, and Lifestyle Management
Understanding Benign Myoclonic Epilepsy Exploring the multifaceted aspects of Benign Myoclonic Epilepsy is crucial for […]
Understanding Fryns–Smeets–Thiry Syndrome (FSTS): Symptoms, Diagnosis, and Management
Fryns–Smeets–Thiry Syndrome (FSTS) Introduction to FSTS Fryns-Smeets-Thiry Syndrome (FSTS), also known as the Fryns syndrome […]
Understanding Xanthinuria: Causes, Symptoms, and Diagnosis
Overview of Xanthinuria Xanthinuria, which was first described by Dent and Philpot (1954), is characterized […]
Understanding Xeroderma Pigmentosum, Type 7: Symptoms, Diagnosis, and Treatment
Introduction to Xeroderma Pigmentosum, Type 7 The disease Xeroderma Pigmentosum, Type 7, also known as […]
Understanding Cranio Osteoarthropathy: Symptoms, Treatment, Causes, and Diagnosis
Symptoms of Cranio Osteoarthropathy Common symptoms include facial pain, joint stiffness, and bone deformities. Uncommon […]
Unraveling the Enigma of Fugue State
Understanding Fugue State Understanding fugue state is essential for those experiencing memory loss and identity […]
Overview of Xeroderma Pigmentosum, Variant Type
Xeroderma pigmentosum (XP) is an extremely rare and severe form of photosensitivity. It is classified […]
Understanding Fuhrmann–Rieger–De Sousa Syndrome: Genetic Basis and Clinical Manifestations
Disease ⎻ Fuhrmann–Rieger–De Sousa Syndrome Fuhrmann–Rieger–De Sousa Syndrome, a rare genetic disease, showcases a complex […]