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Congenital-DisordersCongenital Disorder Resource Center: Causes, Types, Treatments and Organizations

Commonly asked questions about birth defects:

What Are Congenital Disorders?

A congenital disorder(CD) — also known as a birth defect, congenital defect, congenital abnormality or congenital anomaly — is a problem that occurs with the health of the baby while it is still in the womb. Health Line states that 1 out of every 33 babies born in the United States is born with some form of congenital disorder.

What Causes Congenital Disorders?

Boston Children’s Hospital states that most congenital disorders are caused by genetic factors, environmental factors, or a combination of both (known as multifactorial birth defect). However, in most cases the cause is unknown.

Genetic and inherited causes include:

  • Chromosomal defects: These defects are caused by either having too many or too few chromosomes. Some examples of chromosomal defects include Down syndrome and Edward’s syndrome.
  • Single Gene Defects: A mutation in one of the genes is responsible for the defect. Examples of single gene defects include cystic fibrosis and Huntington’s disease.
  • Dominant inheritance: A person is capable of inheriting a genetic disease when one parent, who may or may not have the disease, passes along a single faulty gene. Examples of dominant inheritance include anchrondroplasia and Marfan syndrome.
  • Recessive Inheritance: This happens when two parents who do not have the disease pass the faulty gene along to the child.
  • Environmental Causes: These causes can include a mother’s drug/alcohol problem, or even a disease that the mother may have while carrying the baby. These situations can increase the chance of the baby being born with a birth defect.
  • Multifactorial Birth Defects: These defects are caused by a combination of genetic and environmental factors. In this case, a baby could inherit a gene that increases sensitivity to an environmental trigger. Some examples of multifactorial birth defects include a cleft lip or palate, as well as certain forms of heart and tube defects.

What Types Of Congenital Disorders Are There?

According to Parents.com the types of birth defects can be broken down into three different categories: chromosomal, biochemical and anatomical disorders.

  • Chromosomal Birth Defects (CBD): Babies who have a problem with one or more of their chromosomes. Chromosomes contain genes, and genes help tell your body how to grow and work. When there is something wrong with your genes it can result in Down’s syndrome or Edward’s syndrome.
  • Biochemical Birth Defects (BBD): A form of defect that occurs when there is a problem with the baby’s body chemistry. BBDs prevent the body from properly breaking down food to create energy. Examples of this disorder include Tay-Sachs disease and PKU.
  • Anatomical Birth Defects (ABD):  Refers to when a baby is born with a body part missing or malformed. The most common types of ABDs are heart defects, cleft palate, clubfoot and congenital dislocated hip.

What Types Of Treatments Are Available For Congenital Disorders?

Treatment for congenital disorders depends on both the type and severity of the disorder itself. The following is a list of the common treatments that are used to help treat congenital disorders.

  • Gene Therapy: Is used to replace a gene that is defective or missing. Gene therapy is generally used to help treat a rare group of diseases known as severe combined immunodeficiency disease.
  • Surgery: Is used to help repair anatomical congenital disorders such as cleft pallet and severe heart defects.
  • Enzyme replacement therapy: Enzymes are proteins for which genes code. When a gene is mutated and is unable to produce the gene product, an enzyme is missing or defective. One of the ways to treat this is to replace the enzyme that the gene is incapable of producing.
  • Prenatal treatment: There are a few forms of congenital disease that can be diagnosed and treated before the child is born. This form of treatment can be used to fix problems such as urinary tract blockages and rare lung tumors.

Congenital Disorder Organizations

Alagille Syndrome Alliance

The mission of the Alagille Syndrome Alliance is “Mobilizing resources, facilitating connections, promoting unity, and advocating for a cure to inspire, empower, and enrich the lives of people affected by Alagille Syndrome.”

Contact
Phone: (503) 885-0455

The Arc Of The US

The Arc has been operating for more that 60 years on the front lines, making a change for people who have been diagnosed with Autism, Down’s syndrome, Fetal Alcohol Spectrum Disorder and a range of other diseases across the intellectual and developmental spectrum.

Contact
Phone: (202) 534-3700
Facebook

Genetic Alliance

The mission of the Genetic Alliance is to engage individuals, families and communities to transform health. They try to find disease interventions, health information and opportunities for people to participate in research.

Contact
Phone: (202) 966-5557
Twitter:@GeneticAlliance
Facebook

Birth Defect Research For Children

A nonprofit organization that provides parents and expectant parents with information about various birth defects and supportive services for their children. BDRC has a program that helps parents find other families who have children with the same disorders. The BDRC is also responsible for sponsoring the National Birth Defect Registry, a research project that studies the associations between birth defects and exposure to radiation, medication, alcohol, smoking and other harmful environmental chemicals.

Contact
Phone: (407) 895-0802
Twitter:@BirthDefectRch
Facebook

Children’s Craniofacial Association

The CCA is a national nonprofit organization based in Dallas, Texas. The CCA addresses the medical, financial, emotional and educational concerns relating to craniofacial conditions both nationally and internationally. Their mission is to empower and give hope to individuals and families that are affected by facial differences.

Contact
Phone: (214) 570-9099
Twitter: @CCAKidsTweet
Facebook

Chromosome 18 Registry & Research Society

The Chromosome 18 R&R Society is a registered nonprofit organization dedicated to making chromosome 18 conditions the first treatable chromosome abnormalities. They have thousands of parents, siblings, extended family, friends, businesses and affected individuals in their group. Registry for membership is open to any and every interested person.

Contact
Phone: (210) 657-4968
Facebook

Chromosome 22 Central

Their group offers basic information on many of the main chromosome 22 disorders on their website. The parents and family involved in the organization mainly connect and learn from each other via their Facebook account.

Contact
Phone: (919) 567-8167
Facebook

The American Association of Kidney Patients (AAKP)

The AAKP is dedicated to improving the quality of life for kidney patients through the use of education, advocacy and patient communities. They are the recognized leader for patient-centered education, as they continually develop high quality, professionally written and reviewed educational pieces discussing every level of kidney disease. The AAKP is leading an effort to bring kidney patients together and promote community, conversation, and services to help maximize patients’ everyday lives.

Contact
Phone: (800) 974-1157
Twitter:@KidneyPatients
Facebook

National Institute of Diabetes & Digestive & Kidney Disease (NIDDK)

The NIDDK supports, conducts and coordinates research on many of the most serious diseases that affect public health. The institute helps support clinical research on the diseases of internal medicine and other related sub-specialty fields.

Contact
Phone: (800)860-8747
Twitter:@NIDDKgov
Facebook

Making Contact

An online resource that allows parents who have children with disabilities to reach out and contact other families who have similar experiences. This allows for the sharing of information between families, as well as creates a resource for local support groups and help lines.

Contact
Phone: (808)808-3555

National Organization for Disorders of the Corpus Callosum (NODCC)

The mission of the NODCC is to enhance the quality of life and promote opportunities for individuals who suffer from disorders of the corpus callosum. NODCC aims to raise the profile, understanding and acceptance of these disorders through education, research, advocacy and networking.

Contact
Phone: (714)747-0063
Twitter: @NODCCorg
Facebook

Food Allergy Research & Education (FARE)

The mission of FARE is to improve the health and quality of life of adults and children with food allergies, and to be able to provide hope through the promise of new forms of treatment. They want people who are living with food allergies to live safe and healthy lives with the respect of others through their education and advocacy initiatives.

Contact
Phone: (800)929-4040
Twitter: @FoodAllergy

The International Children’s Anophthalmia Network

The International Children’s Anophthalmia & Microphthalmia Network is a voluntary nonprofit organization. It is a group of families and professionals that are dedicated to lending support to individuals who would like to learn about Anophthalmia and Microphthalmia.

Contact
Phone: (800) 580-4116
Facebook

AMC Support

The goal of the AMC is to provide and encourage further understanding and mutual support among individuals affected by arthrogryposis multiplex congenital (AMC). They wish to create a higher standard of awareness of AMC through conferences, meetings and studies.

Contact
Twitter:@amcsupport
Facebook

Autism Speaks

Autism Speaks is dedicated to promoting solutions across the spectrum and throughout the lifespan of individuals who are living with autism and their families. They promote awareness through advocacy and support, and work to increase the understanding and acceptance of the autism disorder. They help advance research into causes and better forms of interventions for autism spectrum disorder and its related conditions.

Contact
Phone: (888) 288-4762
Twitter:@autismspeaks
Facebook

Children’s Liver Disease Foundation

The Children’s Liver Disease Foundation acts as a comprehensive information hub for both healthcare professionals as well as the general public. It provides a tailored support service for children, young people, and young adults with liver disease and their families. It is the lead charity for supporting medical research into all aspects of childhood liver disease.

Contact
Phone: (614) 429-2120
Facebook

Americal Cleft Palate Craniofacial Association

For over 65 years it has been this association’s goal to provide optimal care to those affected by cleft palate and their families.The organization consists of health care professionals who treat and preform research on oral cleft and craniofacial conditions.

Contact
Phone: (919) 933-9044

Talipes Together

A support network that was created to provide help and support for individuals affected by clubfeet, as well as share information between their families.

Contact
Phone: (614) 429-2120
Facebook

Breath of Hope

A nonprofit organization with the goal of raising awareness of congenital diaphragmatic hernias (CDH) by working with parents, family members and medical professionals to educate and support all who are affected, as well as those who want to learn about CDH.

Contact
Phone: (877)829-5500
Twitter: @ABOHLF_MN
Facebook

Little Bear Sees

This website was created as a resource page to share information about cortical visual impairment (CVI) with as many people as possible. The organization is determined to raise awareness about this condition to prevent children from going undiagnosed.

Contact
Twitter: @LittleBearSees
Facebook

Dandy Walker Alliance

This organization created a website of resources and other helpful information for parents of children affected by Dandy Walker syndrome. The DWA also participates in and funds research for the betterment of those affected by the disease.

Contact
Phone: (877) 362-3992
Twitter: @DandyWalkerAll
Facebook

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