Babies grow and develop at different rates. However, when babies don't reach accepted milestones or appear different looking at birth, further evaluation from medical professionals is in order. According to the American Academy of Pediatrics' Healthy Children website, about three of every one hundred babies delivered in the United States have congenital abnormalities, or problems that occurred during development in the mother's uterus.
CHARGE Syndrome
One half of all CHARGE syndrome cases occur because of mutations in the CHD7 gene. This gene give instructions for making a protein that oversees gene activity in the replication of DNA, a process known as chromatin remodeling according to the U.S. National Library of Medicine's Genetics Home Reference website. CHARGE stands for multiple defects that include coloboma of the eye, which is a hole in one of the eye structures; heart defect; atresia, in which the passageway from the back of one side of the nose to throat is closed; retarded growth and development; genital and/or urinary abnormalities and ear abnormalities or deafness. Most cases of CHARGE syndrome begin from new mutations and happen in babies with no family history.
Galactosemia
Galactosemia affects the way the body breaks down the simple sugar galactose, which is found in dairy products and many infant formulas. This condition is caused by mutations in the gene that affects the enzymes that break down the galactose, notes the Genetics Home Reference website.
Babies with Galactosemia who are not treated within days of birth will develop life-threatening problems. Babies exhibit difficulty feeding and a lack of energy leading to a state of failure to thrive, jaundice, permanent liver damage and bleeding. Other serious complications include overwhelming sepsis, or infection, shock and death, according to the the Gene Reviews website. Management of the problem includes switching the baby to a milk- and lactose-free formula.
Fragile X Syndrome
According to the Department of Health and Human Services Center for Disease Control and Prevention, Fragile X syndrome, or FXS, is the most common reason for genetic intellectual disability or mental retardation. The cause of FXS is a mutation or change in the gene on the X chromosome, also referred to as the Fragile X Mental Retardation 1 gene, or FMR1.
Babies with Fragile X Syndrome begin to show developmental delays as they grow. The most evident signs include not sitting, walking or speaking like other children do. Females have milder symptoms than males--male babies eventually show mild to severe intellectual disability and females typically have normal intelligence or some intellectual challenges with or without disabilities, reports the Centers for Disease Control and Prevention website.
Cystic Fibrosis
Cystic fibrosis, an inherited disorder, occurs in every 1 out of 3,000 births and results in severe lung damage and nutritional problems. Affected cells produce a sticky substance instead of the normal mucous thereby causing clogged up passageways, especially in the lung and pancreas, notes the Mayo Clinic website. Common symptoms include frequent lung infections and poor weight gain due to digestive enzymes being blocked from reaching the small intestine.
Tay-Sachs
Tay-Sachs is an untreatable disease will a poor prognosis. Most children born with Tay-Sachs will die by the age of 4, according to the NINDS. The cause stems from weak activity within the enzyme called beta-hexosaminidase A, which helps break down the fatty substance known as gangliosides during the period of early brain growth. Tay-Sachs babies may appear to normal at birth, but within a few months, crippling mental and physical disabilities set in.
References
- American Acadmeny of Pediatrics: Healthy Children: Congenital Abnormalities
- U. S. National Library of Medicine: Genetics Home Reference: CHARGE syndrome
- U. S. National Library of Medicine: Genetics Home Reference: Galactosemia
- GENE Reviews: Galactosemia
- Department of Health and Human Services Centers for Disease Control and Prevention: Fragile X Syndrome
