Genetic factors play a crucial role in the etiology of 18-Hydroxylase Deficiency, often involving inherited […]
Understanding Cartwright-Nelson-Fryns Syndrome: Symptoms, Causes, and Treatment Options
Symptoms of Cartwright-Nelson-Fryns Syndrome Individuals with Cartwright-Nelson-Fryns Syndrome may experience a range of symptoms, including […]
Dysferlinopathy: Genetics, Symptoms, Diagnosis, and Treatment
Disease ⎻ Dysferlinopathy Dysferlinopathy is a rare genetic disorder characterized by mutations in the dysferlin […]
Understanding Monosomy 2q Syndrome: Causes, Symptoms, Diagnosis, and Treatment
Overview of Monosomy 2q Syndrome Monosomy 2q Syndrome involves the deletion of a portion of […]
Understanding Dysfibrinogenemia, Familial: Symptoms, Diagnosis, and Genetic Mutations
Disease ‒ Dysfibrinogenemia, Familial Welcome to the comprehensive guide on Dysfibrinogenemia, Familial. This article will […]
Understanding Multiple Pterygium Syndrome Lethal Type
Introduction to Multiple Pterygium Syndrome Lethal Type The lethal variant presents with fetal abnormalities including […]
Understanding Dysgraphia: Types, Symptoms, and Causes
Understanding Dysgraphia Introduction to Dysgraphia Dysgraphia is a specific learning disability that affects a person’s […]
Understanding Multiple Fibrofolliculoma Familial: Clinical Presentation, Diagnosis, and Management
Introduction Multiple skin tumors often exhibit autosomal dominant inheritance and may be associated with various […]
Understanding Angiolipomas: Characteristics, Diagnosis, and Management
Introduction Angiolipomas appear as multiple small subcutaneous nodules, often tender and commonly found on the […]
Understanding Dysharmonic Skeletal Maturation Muscular Fiber Disproportion
Disease ‒ Dysharmonic Skeletal Maturation Muscular Fiber Disproportion When it comes to dysharmonic skeletal maturation […]