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Emery-Dreifuss Muscular Dystrophy in Children What is Emery-Dreifuss muscular dystrophy in children? Emery-Dreifuss muscular dystrophy (EDMD) is one of the muscular dystrophies. These are a group of rare, inherited muscle diseases (myopathies). EDMD causes weakness in your child

Facioscapulohumeral Muscular Dystrophy in Children What is FSHD in children? Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of your child’s face, shoulders, upper arms, and lower legs. These muscles weaken and shrink

Skin Cancer in Children What is skin cancer in children? Skin cancer is a type of cancer that starts in the cells of the skin. It can spread to and damage nearby tissue. Over time, it can spread to other parts of the body. Skin cancer is very rare in children. What causes skin

Truncus Arteriosus (TA) What is truncus arteriosus? Truncus arteriosus is a heart defect that is present at birth (congenital). It happens when there is an abnormal connection between the aorta and pulmonary artery. Normally, the aorta and the pulmonary artery are separate. In

Types of Hearing Loss in Children What are the different types of hearing loss? There are 3 main types of hearing loss: sensorineural, conductive, and mixed (both sensorineural and conductive). These types of hearing loss can be present at birth (congenital). Or they can happen

Ventricular Septal Defect (VSD) What is a ventricular septal defect? A ventricular septal defect (VSD) is a congenital heart defect. This means that your baby is born with it. A VSD is a hole in the wall (septum) that separates the 2 lower chambers of the heart (right and left

Overview of Craniofacial Anomalies What are craniofacial anomalies? Craniofacial anomalies (CFA) are a variety of deformities in the growth of the head and facial bones. Anomaly is a medical term meaning different from normal. These abnormalities are present at birth (congenital)

Uniparental Disomy: Prader-Willi Syndrome and Angelman Syndrome What is uniparental disomy? Chromosome pairs affect how our body works. Normally, a baby gets 1 copy of each chromosome pair from each parent. This means 1 copy from the genetic mother, and the other copy from the

Lymphadenopathy in Children What is lymphadenopathy in children? Lymphadenopathy means swelling of the lymph nodes or glands. These are the bean-shaped glands in the neck, armpits, groin, chest, and abdomen. These glands act as filters for lymphatic fluid. This fluid contains

Lymphatic Malformations in Children What is a lymphatic malformation in children? A lymphatic malformation is a lymphatic vessel that isn't formed correctly. The vessel traps the lymph fluid and causes cysts to form. Your child may have one or more of these cysts. Lymphatic