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Items: 8

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.

Sirenomelia

A developmental defect in which the legs are fused together. [from HPO]

MedGen UID:
52357
Concept ID:
C0037205
Disease or Syndrome
3.

Very rare

MedGen UID:
344528
Concept ID:
C1855575
Finding
4.

Phocomelia

A congenital malformation in which the upper portion of a limb is either shortened or absent. [from NCI]

MedGen UID:
10721
Concept ID:
C0031575
Congenital Abnormality
5.

Hemimelia

A congenital malformation characterized by the partial or total absence of the distal half of a limb. [from NCI]

MedGen UID:
9194
Concept ID:
C0018987
Congenital Abnormality
6.

Amelia

A congenital malformation characterized by the complete absence of all limbs. [from NCI]

MedGen UID:
8014
Concept ID:
C0002447
Congenital Abnormality
7.

Monophthalmos

A rare congenital abnormality characterized by the failure of the embryonic prosencephalon to separate the eye orbit into two distinct cavities. Facial features tend to be absent although a proboscis has been seen to develop in conjunction. [from NCI]

MedGen UID:
672794
Concept ID:
C0685869
Congenital Abnormality
8.

Acardia

MedGen UID:
91032
Concept ID:
C0344580
Congenital Abnormality
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