Fetal malformations occur rarely and over 50% are identified through ultrasound


The most frequently diagnosed cause of short stature is achondroplasia, a genetic condition that results in disproportionately short arms and legs. ... read more »

Fetus In Fetu Birth Defect

Fetus in fetu is an extremely rare malformation reported about 100 times in the literature. Fetus in fetu has been defined as the presence of one of the twins, a monozygotic twin, in the body, usually the abdomen, of the other twin. ... read more »

What Is a Vestigial Tail?

All humans have a tail during embryological development, and usually, the tail disappears in the first trimester. If not, the baby is born with a vestigial tail. ... read more »

Down Syndrome (Trisomy 21)

Down syndrome is a genetic disorder caused by a duplication chromosome. Patients with Down syndrome have two copies of chromosome 21 so they are born with 47 chromosomes as opposed to the normal 46. ... read more »

Living with Congenital Heart Disease

Some congenital heart disease conditions are mild enough to be left untreated without reducing lifespan or quality of life, though there are lifestyle changes and health care that must be taken into consideration. If the condition worsens, at any time, further medical treatment may be needed. ... read more »

Coarctation of the Aorta

A coarctation of the aorta is diagnosed when a portion of the aorta is narrowed making it difficult for blood to pass through the major artery. The aorta is responsible for moving blood out of the heart to the blood vessels. ... read more »

Spina Bifida

Spina bifida is a neural tube defect. The neural tube develops in the first weeks of pregnancy and closes by the end of the first month. Spina bifida develops when the neural tube does not close properly. ... read more »

Trisomy 18 - Edward Syndrome

Trisomy 18 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 6,000 live-born infants. Trisomy 18 is due to the presence of an extra #18 chromosome. ... read more »

Harlequin-type Ichthyosis

Infants born with Harlequin-type Ichthyosis present with dry, scaly skin creating a diamond pattern on the body. Skin is much thicker than normal and does not bend so severe cracking occurs. When cracks forms, risk of infection increases. Some skin infections associated with Harlequin-type Ichthyosis can be fatal. ... read more »

Congenital CHARGE Disorder

In 1979, Dr. BD Hall was the first to describe CHARGE disorder. The name CHARGE is an acronym for the effects of the disorder on the body. ... read more »

Anophthalmos / Microphthalmos

Infants born with orbital tissue missing from one or both eyes, they are diagnosed with Anophthalmos. ... read more »

Persistant cloaca

Female infants born with persistant cloaca have a fused common canal for the vagina, urethra and rectum. ... read more »

Achondroplasia and Pregnancy

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." However, the problem is not in forming cartilage but in converting it to bone (a process called ossification). ... read more »

Diaphragmatic Hernia

When an infant suffers from a diaphragmatic hernia, a space in the diaphragm allows organs to pass through and into the chest cavity. ... read more »


Children born with Omphalocele have a type of hernia that allows the intestines, liver, and sometimes other organs to protrude through the belly button area of the stomach. ... read more »

Anotia - Microtia - Fetal Malformation

If an infant is born with a missing ear, the condition is called anotia. If the ear is smaller than average or only a portion of the ear developed, it is called microtia. ... read more »

Congenital Hypospadias

Hypospadias is a birth defect in male infants that presents with a misplaced urethra. Typically the urethra is located in the middle of the tip of the glans penis. ... read more »

Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (also known as CDH) is an abnormality that occurs before birth as a fetus is forming in the mother's uterus. ... read more »

Cerebral Palsy

Cerebral palsy or 'CP'  means weakness or lack of muscle control. CP is a group of different medical conditions which usually affect a person's ability to keep posture or maintain balance due to abnormal brain development leading to a person's ability to control her or his muscles. ... read more »

Cleft Food and Hand (Lobster Food or Hand)

Cleft foot and hand is also known as a lobster foot and hand.  Cleft foot and hand is also known as partial adactyly and is a rare inherited or congenital anomaly. In a cleft foot or hand a single cleft extends promixally into the foot/hand. It usually occurs in conjunction with clawing of the hand. Clefts are usually V-shaped. ... read more »


Brachydactyly is a condition which is associated with fingers or toes that are disproportionately short compared to the hand or the foot. The diagnosis is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E).   ... read more »

Heterochromia and Pregnancy

Heterochromia is a genetic or acquired eye condition that affects the iris. There are three forms of the condition: complete, sectoral and central. ... read more »

The Bachelor’s Sarah Herron Born With One Arm

Sarah Herron, a contestant on the hit television show The Bachelor, was born with only one arm. A condition known as amniotic band syndrome is to blame for this. ... read more »

Phocomelia - Shortened or Absent Arms or Legs

Phocomelia is a congenital disorder that presents with a reduction in length of the long bones of the legs and / or arms. ... read more »


Hydrocephaly is a condition that can present at birth or develop at any time in life when associated with injury or illness. ... read more »

Marfan Syndrome And Pregnancy

Marfan syndrome (MFS) is a disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. ... read more »

Down Syndrome Ultrasound Markers

Over the last decade, new technology has improved the methods of detection of fetal abnormalities, including Down syndrome. ... read more »

Fetal Alcohol Syndrome (FAS)

According to the CDC, each year between 1,300 and 8,000 babies in the United States are born with fetal alcohol syndrome (FAS). FAS is a combination of physical and mental birth defects. ... read more »

Congenital Heart Disease: What Is It?

Congenital Heart Disease (CHD) is another name for a congenital heart defect. The word congenital refers to the fact that the patient is born with the condition. ... read more »