Understanding Camptobrachydactyly Learn about the causes, symptoms, and treatment options for this condition to better […]
Understanding Adenosine Triphosphatase Deficiency and Anemia: Causes, Symptoms, Diagnosis, and Treatment
Introduction to Adenosine Triphosphatase Deficiency Adenosine Triphosphatase Deficiency is a rare genetic disorder that can […]
Understanding Arhinia: Causes, Treatment Options, and Coping Strategies
Understanding Arhinia Arhinia, a rare condition where a person is born without a nose, can […]
Overview of Pigmentary Retinopathy
Pigmentary retinopathy mimics retinitis pigmentosa due to retinal dystrophic changes, night blindness, visual field constriction, […]
Understanding Colobomatous Microphthalmia: Causes, Symptoms, Diagnosis, and Treatment
Colobomatous Microphthalmia Overview Definition of Colobomatous Microphthalmia Colobomatous microphthalmia is a rare eye condition characterized […]
Introduction to Pili Canulati
Pili Canulati, also known as ring hair, is a rare genetic hair disorder characterized by […]
Understanding Cytochrome C Oxidase Deficiency: Symptoms, Causes, Diagnosis, Treatment, and Prognosis
Symptoms of Cytochrome C Oxidase Deficiency Muscle weakness Developmental delays Enlarged liver Intellectual disability Heart […]
An Overview of Pigmented Villonodular Synovitis
Introduction to Pigmented Villonodular Synovitis Pigmented villonodular synovitis (PVNS) is a benign tumor originating from […]
Understanding Pili Torti Developmental Delay Neurological Abnormalities
Symptoms of Pili Torti Developmental Delay Neurological Abnormalities Recognizing signs such as sparse eyebrows, twisted […]
Understanding Björnstad Syndrome: A Rare Genetic Disorder Characterized by Pili Torti and Sensorineural Hearing Loss
Introduction Björnstad Syndrome is a rare genetic disorder characterized by pili torti, which are flattened […]