congenital malformation

Researchers recently published a study in the journal BJOG
on the effect of maternal asthma on the neonate. The study addressed congenital
malformations, hospitalization risk and perinatal mortality.

Over the last 30 years, the numbers of congenital anomalies have
doubled in multiple births, according to a research study published in BJOG. The study was completed by researchers from the University of Ulster.

Aniridia is a congenital eye disorder also referred to as iris
hypoplasia. At first glance, patients with aniridia appear to have no
iris (colored part of the eye), but a closer look reveals the root of
the iris.

Researchers from the Boston University School of Public Health
report there is no increased risk of congenital anomalies in patients
taking asthma medications during pregnancy. The study was published in
the journal Pharmacotherapy.

Hypertension during your pregnancy can be very dangerous, but recent
studies show that the medications prescribed to regulate the problem
might pose an even bigger risk.

While animal studies do not always result in direct correlations with
human outcomes, researchers believe chicken heart development may hold
the key to a possible breakthrough in congenital heart defect
development.

Barth Syndrome is a rare genetic disorder only associated with the X
chromosome. The condition affects growth and causes cardiomyopathy and
neutropenia. The study included males with an official diagnosis of
Barth Syndrome (BTHS).

Hypospadias is a congenital medical condition where the urethra forms
abnormally on the penis. Researchers believe the condition may be
associated with chemicals that disrupt the endocrine system,
specifically organochlorine pollutants, otherwise known as POP.

CAH, or congenital adrenal hyperplasia, is a condition where otherwise
female fetuses can be born intersex, with male genitals or with a
male-sided brain.

The term cleft lip or cleft palate refers to a birth defect that affects the upper lip and/or the roof of the mouth, known as the palate. In mild cases, the birth defect does not affect eating and can easily be repaired with simple cosmetic surgery.

Being overweight during pregnancy significantly increases pregnancy
complication risk. Smoking during pregnancy also increases pregnancy
complication risk.

WWS, also known as Walker Warburg Syndrome, is a genetic condition
passed on to children of parents with two recessive genes. Both parents
must have the recessive gene for children to be born with the condition.

Joubert Syndrome is a condition caused by a malformation of the brain.
The condition can be passed from parents to children. In order for the
condition to be inherited, parents must possess multiple recessive
mutated genes, including CEP290, AHI1 and NPHP1.

Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome.

The age at which women are choosing to start a family is getting older and older. With increased age comes a greater risk of Down Syndrome (Trisomy 21) at birth.

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

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

Heartburn is a common complication in pregnancy, but researchers say pregnant women should not worry about their effects on the unborn fetus.

HLHS, or Hypoplastic left heart syndrome, is a common form of congenital heart disease. The conditions presents with an underdeveloped left ventricle

Children born with hypotonia have low muscle tone and lower than average strength. Most children are not born with hypotonia, but develop it as a result of some other disorder or disease.

Infants born with a hyper flexibility may be diagnosed with Ehlers-Danlos Syndrome. The condition is characterized by loose joints and loose connective tissue.

Patients with Dandy Walker Syndrome are diagnosed with a malformation of the brain involving the cerebellum and the space around the cerebellum that is filled with fluid.

The official name of Duncan’s Disease is X-linked lymphoproliferative disease. The condition is caused by a malformation of the X chromosome, which means both male and female children can be affected. Specifically, the SH2D1A gene does not exist.

When a small section from the middle of Chromosome 22 is missing, DiGeorge Syndrome occurs. The disorder happens in one of 4,000 pregnancies. DiGeorge Syndrome was discovered in 1968 by  Angelo DiGeorge.

Albinism is characterized by a lack of the pigment melanin in skin, hair and eyes. There are two main forms of albinism.

Tetralogy of Fallot is a combination of four heart defects that are present at birth. Symptoms of the condition include difficulty eating, failure to thrive, no weight gain or weight loss, sudden death or stroke.

Hypoplastic left heart syndrome is a congenital heart defect where the left side of the heart is underdeveloped. For the first 10 to 11 days after birth, the patent ductus arteriosus, this closes soon after birth.

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.

Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation.

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