Genetic Disorders and Birth Defects

General: Children diagnosed with holoprosencephaly (HPE) may have a small head (called microcephaly), excessive fluid in the brain (hydrocephalus), variable degrees of intellectual disabilities (formerly called mental retardation), epilepsy (brain... Full Answer

Bleeding in the lungs: Cystic fibrosis (CF) patients may develop bleeding in the lungs called hemoptysis. When this happens, patients typically cough up blood in their sputum. Patients should visit their healthcare providers as soon as possible if this... Full Answer

Carnosine is a small protein composed of the amino acids histidine and alanine. It is found in relatively high concentrations in several body tissues, most notably in skeletal muscle, heart muscle, and the brain. The exact biological role of carnosine is... Full Answer

Cystic fibrosis is a genetic disorder that cannot be prevented. But people who have cystic fibrosis can help prevent more serious health problems such as lung infections by: Keeping immunizations current. Children who have cystic fibrosis should have... Full Answer

Symptoms of cystic fibrosis are usually caused by the production of thick, sticky mucus. Symptoms vary from person to person and are not always obvious in childhood. Early signs and symptoms Symptoms of cystic fibrosis in a baby or young child may... Full Answer

Cystic fibrosisis a metabolic disorder that’s passed on from parent to child. It’s seen mostly in Caucasians of Central and Northern European descent, but affects every race. Being a carrier of the gene that can cause CF does not mean that it... Full Answer

Cystic fibrosis is the most common lung disease that requires transplantation in children. It is a genetic disease caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Children with cystic fibrosis have thick, sticky... Full Answer

Natural treatments for cystic fibrosis (CF) include: Music therapy: Music is an ancient tool of healing that was recognized in the writings of Pythagoras, Aristotle, and Plato. Today, music is used to influence physical, emotional, cognitive, and social... Full Answer

Because the cause of holoprosencephaly (HPE) is poorly understood, there is no known method of prevention for the disorder.Infants born to diabetic mothers may have an increased risk of having HPE. Diabetic mothers can help reduce their risks of having... Full Answer

Holoprosencephaly (HPE) may be suspected during a routine ultrasound examination if the unborn baby's head is smaller than normal.After birth, severe cases of HPE may be diagnosed based on the child's signs and symptoms. In severe cases, characteristic... Full Answer