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Items: 6

1.

Congenital defects

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown. . Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects. Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
66328
Concept ID:
C0220810
Congenital Abnormality
2.

Anophthalmia/Microphthalmia

MedGen UID:
893447
Concept ID:
CN239484
Finding
3.

Anophthalmia - microphthalmia

MedGen UID:
879773
Concept ID:
CN235161
Finding
4.

Anophthalmia/Microphthalmia

Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. [from GeneReviews]

MedGen UID:
468558
Concept ID:
CN120488
Disease or Syndrome
5.

Maternal Fever

The elevation of body temperature in a pregnant mother above 38 degrees C or more than 101 degrees F, and may be indicative of an infection. [from NCI]

MedGen UID:
457532
Concept ID:
C2985306
Sign or Symptom
6.

Renal hypoplasia/aplasia

Absence or underdevelopment of the kidney. [from HPO]

MedGen UID:
387822
Concept ID:
C1857453
Finding
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