Glossary of Birth Defects Terms & Links

The following is a glossary of different birth defects terms as well as links to
other web-sites, to help you understand a bit more about what your baby 
will be facing:

Agenesis, aplasia:An incomplete or faulty development of a body part or
organ, implying that the structure never formed.
National Institutes of Health
www.(NIH)genesis/agenesis.htm
www.ninds.nih.gov/disorders/agenesis/agenesis.htm
A good primer on the condition, symptoms, current research


Agenesis of the Corpus Callosum (ACC): This is a rare birth defect when the band of tissue connecting the two cerebral hemispheres of the brain are partial or completely absent.
National Organization of Disorders of the Corpus Callosum
www.nodcc.org
Non-profit organization started by families to support those
with corpus callosum related disorders. 


Amniotic band syndrome (ABS): This a congenital disorder caused by
entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while  in utero.
www.amnioticbandsyndrome.com/

Anencephaly:Congenital absence of most of the brain and spinal cord.
www.anencephaly.net/ 


Aniridia: Congenital complete absence of the iris, the round pigmented
contractile membrane of the eye.
www.aniridia.org/


Anophthalmia: Complete absence of tissues of the eyes. www.anophthalmia.org/anopthalmia_questions.shtml 


Aortic valve stenosis: When aortic valve stenosis occurs, the aortic valve,
located between the aorta and left ventricle of the heart, is narrower than
normal size.
www.healthatoz.com

Anotia: Congenital absence of one or both ears.
www.dshs.state.tx.us/birthdefects/risk/risk13-ear.shtm

Arthrogryposis: Congenital disorder marked by generalized stiffness of the
joints, often accompanied by muscle and nerve degeneration, resulting in
severely  impaired mobility of the limbs.
www.creighton.edu/OTD322/arthrogryposis.htm 


Atresia: The congenital absence or closure of a normal body orifice or
tubular passage such as the external ear canal, large/small intestine,
rectum, or anus- also know as imperforate anus.
www.earsurgery.org/atresia.html
(Congenital Ear & Microtia Atresia)

www.healthatoz.com/healthatoz/Atoz/ency/anal_atresia.jsp
(Tricuspid Atresia)

www.healthatoz.com/healthatoz/Atoz/ency/anal_atresia.jsp
(Anal Atresia)

www.chop.edu/consumer/jsp/division/generic.jsp?id=72376
(small/large intestinal atresia) 


Atrial Septal Defect (ASD): Congenital heart defect characterized by one
or more openings in the atrial septum, which is the wall between the right
and left atria. Most common type is called ASD, secundum.
www.cincinnatichildrens.org/health/heart-encyclopedia/anomalies/asd.htm 


Biliary atresia: Atresia of the major bile ducts (any of the excretory ducts in
the liver that convey bile between the liver and the intestine, including the
hepatic, cystic, and common bile ducts) resulting in cholestasis and jaundice.                www.healthsystem.virginia.edu/uvahealth/peds_digest/biliary.cfm 

 
Bladder exstrophy: The diagnosis involves a spectrum of anomalies of the
lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.
www.bladderexstrophy.com/faq.htm


Branchial cleft, fistula, tag, cyst: Congenital abnormality of the neck or
area just below the collarbone (clavicle). Includes skin pits (cleft), tissue tags,
or cysts.
www.pediatric-ent.com/learning/problems/lump_neck.htm


Cataract: Congenital opacity (clouding) of the lens of the eye. Cataracts typically  progress slowly to cause vision loss and are potentially blinding
if left untreated.
www.heatoneye.com/edu_ped_cataract.html


Choanal atresia, choanal stenosis: Congenital absence (or narrowing) where the back of the nasal passage is blocked, usually by abnormal bony
or soft tissue.
www.childsdoc.org/fall98/choanal/choanal.asp


Chromosome disorders: Is an alteration in the number or genetic
structure of chromosomes.
www.biology.iupui.edu/biocourses/N100/2k2humancsomaldisorders.html


Cleft lip: Congenital defect that occurs in the oral-facial region often involve the lip, the roof of the mouth (hard palate) or the soft tissue in the back of
the mouth (soft palate). Two major types of oral-facial clefts are cleft
lip/palate and isolated cleft palate, which are congenital deformities caused
by a failure in facial development during gestation. A cleft lip or palate can
be treated with surgery shortly after birth with highly successful results. www.health.org/kid/health_problems/birth_defect/cleft_lip_palate.html


Cleft palate: Congenital defect in the roof of the mouth, resulting from incomplete fusion of the palate during your baby’s. May involve the soft
palate, hard palate or alveolus (gum).
www.kidshealth.org/kid/health_problems/birth_defect/cleft_lip_palate.html


Coarctation of the aorta: Congenital heart defect characterized by
narrowing of the descending aorta. Usually occurs as an indentation at a specific  location, less commonly diffuse narrowing.
www.americanheart.org/presenter.jhtml?identifier=11069


Congenital Adrenal Hyperplasia: is a genetic disorder characterized by a
deficiency in the hormones cortisol and aldosterone and an over-production
of the hormone androgen, which is present at birth and affects sexual
development.
www.healthatoz.com/healthatoz/Atoz/ency/congenital_adrenal_hyperplasia.jsp

www.magicfoundation.org/www/docs/100/congenital_adrenal_hyperplasia.html


Congenital heart defect (CHD), cardiovascular malformation (CVM):
is a defect in the structure of the heart and great vessels present at birth.
Heart defects are among the most common birth defects, and are the leading
cause of birth defect-related deaths.                           
www.congenitalheartdefects.com/


Congenital hip dysplasia: A condition of abnormal development of the hip,
resulting in hip joint instability and potential dislocation of the thigh bone
from the socket in the pelvis. This condition has been more recently termed
developmental hip dysplasia, as it often develops over the first few weeks,
months, or years of life.        
www.healthatoz.com/healthatoz/Atoz/ency/congenital_hip_dysplasia.jsp


Craniosynostosis: is a medical condition in which some or all of the
sutures in the skull of an infant close too early, causing problems with
normal brain and skull growth. It can result in craniostenosis, which is the
skull deformity caused by the premature closure of the cranial sutures.
www.kidsplastsurg.com/craniosynostosis.html