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Phenylketonuria (PKU) in Children What is phenylketonuria (PKU) in children? Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. It helps the body make protein. It's also

Imperforate Anus in Children What is imperforate anus in children? Imperforate anus is a problem that your child is born with. It happens when your child has a blocked or missing anus. The final part of the digestive tract is the rectum. The rectum collects and compacts the solid

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

Short Bowel Syndrome in Children What is short bowel syndrome in children? Short bowel syndrome is when the body has trouble absorbing nutrients from food because of a problem with the small intestine. It often happens to children who have had a large part of their small

Dyskeratosis Congenita in Children What is dyskeratosis congenita in children? Dyskeratosis congenita is a congenital disease. This means it's present at birth. It's a very rare condition. It affects the skin and nails. In its most severe form, it causes bone marrow failure. When

Diamond Blackfan Anemia (DBA) in Children What is DBA in children? Diamond Blackfan anemia (DBA) is a rare blood disorder. Children with DBA don't make enough red blood cells. These cells carry oxygen to all other cells in the body. Blood cells are made in the bone marrow, the

Tongue-Tie (Ankyloglossia) in Children What is tongue-tie in children? Tongue-tie (ankyloglossia) is a problem with the tongue that is present from birth. It causes speech and eating problems in some children. The lingual frenulum of the tongue is a small fold of tissue that

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

Duchenne Muscular Dystrophy in Children What is Duchenne muscular dystrophy in children? Duchenne muscular dystrophy (DMD) is a genetic condition that weakens your child’s muscles. It is the most common muscular dystrophy, a kind of inherited muscle disease. DMD causes weakness

Neonatal Hypoxic-Ischemic Encephalopathy What is neonatal hypoxic-ischemic encephalopathy? Hypoxic-ischemic encephalopathy (HIE) is a type of brain damage. It’s caused by a lack of oxygen to the brain before or shortly after birth. It affects the central nervous system. Babies