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Diseases and Disorders > Genetics and Birth Defects

Use these links to jump directly to your topic of interest in Genetics and Birth Defects:

Genetics: General Genetics | Gene Therapy | Genetic Counseling | Genetic Testing | Genetics of Specific Diseases

Birth Defects: General Birth Defects | Cardiovascular Defects | Connective Tissue Disorders | Craniofacial Anomalies | Digestive System Defects | Dwarfism | Eye Abnormalities | Genital Defects | Musculoskeletal Defects | Nervous System Defects | Multiple Congenital Anomalies: #, A - C, D - M, N - R , S - W | Urinary Tract Defects


Multiple Congenital Anomalies (#, A - C)

(Jump to: # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z )

13q Deletion Syndrome
Monosomy 13q Syndrome:Swedish Information Center for Rare Diseases


15q Duplications
IsoDicentric 15 Exchange, Advocacy & Support (IDEAS)
Basic Genetics of Chromosome 15 Duplications:IDEAS
FAQ:IDEAS
Information for Families:IDEAS
Therapy Recommendations:IDEAS


18q Deletion Syndrome
18q- Syndrome:United Leukodystrophy Foundation
18 q-:Chromosome 18 Registry & Research Society


1p36 Deletion Syndrome
About 1p36:1p36 Deletion Syndrome
1p36 Deletion Syndrome:Swedish Information Center for Rare Diseases
1p36 Deletion Syndrome:GeneReviews


22q11.2 Deletion Syndrome
About the Chromosome 22q11.2 Deletion:Children's Hospital of Philadelphia
Treating the Chromosome 22q11.2 Deletion:Children's Hospital of Philadelphia
22q11 Deletion Syndrome:Swedish Information Center for Rare Diseases
The History of the 22q11.2 Deletion: Chromosome 22 Central
22q11.2 Deletion Syndrome:Genetics Home Reference, NLM
22q11.2 Deletion Syndrome:GeneReviews
See also DiGeorge Syndrome, Opitz G/BBB Syndrome, Velocardiofacial Syndrome


22q13.3 Deletion Syndrome
What is 22q13 Deletion / Phelan-McDermid Syndrome?:22q13 Deletion Syndrome Foundation
Medical Information:22q13 Deletion Syndrome Foundation
22q13.3 Deletion Syndrome:GeneReviews


2q37Deletion Syndrome
Brachydactyly-Mental Retardation Syndrome (2q37 deletion):Genomic Medicine Institute, Cleveland Clinic
2q37 Deletion Syndrome:GeneReviews


Allan-Herndon-Dudley Syndrome
Allan-Herndon Syndrome:NORD
Allan-Herndon-Dudley Syndrome:Genetics Home Reference, NLM


Alstrom Syndrome
Alstrom Syndrome:Alstrom Syndrome International
Alstrom Syndrome:Swedish Information Center for Rare Diseases
Alstrom Syndrome:Genetics Home Reference, NLM
Alstrom Syndrome:GeneReviews


Angelman Syndrome
Facts About Angelman Syndrome:Angelman Syndrome Foundation
Angelman Syndrome:Swedish Information Center for Rare Diseases
Angelman Syndrome:Angelman, Rett, and Prader-Willi Syndrome Consortium
Angelman Syndrome:Genetics Home Reference, NLM
Angelman Syndrome:GeneReviews


Antley Bixler Syndrome
Antley Bixler Syndrome:NORD
Cytochrome P450 Oxidoreductase Deficiency:GeneReviews


Apert Syndrome
Apert Syndrome:FACES
A Guide to Understanding Apert Syndrome:CCAkids [PDF]
Apert Syndrome:Craniofacial Center
Apert Syndrome:Swedish Information Center for Rare Diseases
Apert Syndrome:Genetics Home Reference, NLM
See also Craniofacial Anomalies, Craniosynostosis


ATR-X Syndrome
ATR-X Syndrome:Weatherall Institute of Molecular Medicine
Alpha-Thalassemia X-Linked Mental Retardation Syndrome:GeneReviews


Baller-Gerold Syndrome
Baller-Gerold Syndrome:NORD
Baller-Gerold Syndrome:Genetics Home Reference, NLM
Baller-Gerold Syndrome:GeneReviews


Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome:NORD
Bannayan-Riley-Ruvalcaba Syndrome: A Guide for Patients and Their Families, University of Iowa


Bardet-Biedl Syndrome
Bardet-Biedl Syndrome:Madisons Foundation
Bardet-Biedl Syndrome:Foundation Fighting Blindness
Bardet-Biedl Syndrome:GeneReviews


Barth Syndrome
Barth Syndrome:NORD
About Barth Syndrome:Barth Syndrome Foundation


Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson Cutis Gyrata Syndrome:Johns Hopkins Craniofacial Center
Beare-Stevenson Cutis Gyrata Syndrome:Genetics Home Reference, NLM
See also Craniofacial Anomalies, Craniosynostosis


Beckwith Wiedemann Syndrome
What Should I Know About BWS?:Beckwith Wiedemann Syndrome Family Forum
Understanding Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia:Washington University [PDF]
PLWC Guide to Beckwith-Wiedemann Syndrome:American Society of Clinical Oncology
Beckwith-Wiedemann Syndrome:Genetics Home Reference, NLM
Beckwith-Wiedemann Syndrome:GeneReviews


Bloom Syndrome
Bloom's Syndrome:Jewish Genetic Diseases
Bloom Syndrome:Genetics Home Reference, NLM
Bloom's Syndrome:GeneReviews


Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal (BOR) Syndrome:Boys Town National Research Hospital
Branchio-Oto-Renal Syndrome:Johns Hopkins Craniofacial Center
Branchiootorenal Syndrome:Genetcis Home Reference, NLM
Branchiootorenal Syndrome:GeneReviews


Cardiofaciocutaneous Syndrome
About the Syndrome:CFC International
Parent’s Guide to the Cardio-Facio-Cutaneous Syndrome:CFC International [PDF]
Cardiofaciocutaneous Syndrome:Genetics Home Reference, NLM
Cardiofaciocutaneous Syndrome:GeneReviews


Carpenter Syndrome
Carpenter Syndrome:NORD
Carpenter Syndrome:Johns Hopkins Craniofacial Center


Cat Eye Syndrome
Cat Eye Syndrome:NORD
Cat Eye Syndrome:Chomosome 22 Central


Char Syndrome
Char Syndrome:Madisons Foundation
Char Syndrome:GeneReviews


CHARGE Syndrome
About CHARGE:CHARGE Syndrome Foundation
CHARGE Syndrome:GeneReviews


Cleidocranial Dysplasia
Cleidocranial Dysplasia:National Craniofacial Association
Cleidocranial Dysplasia:Johns Hopkins Craniofacial Center
Cleidocranial Dysplasia:Genetics Home Reference, NLM
Cleidocranial Dysplasia:GeneReviews


Cockayne Syndrome
Cockayne Syndrome:Madisons Foundation
About Cockayne Syndrome:Cockayne Syndrome Network
Cerebro-Oculo-Facio-Skeletal Syndrome (Cockayne Type II):NINDS
Cockayne Syndrome:Genetics Home Reference, NLM
Cockayne Syndrome:GeneReviews


Coffin-Lowry Syndrome
Coffin-Lowry Syndrome:Madisons Foundation
Frequently Asked Questions:Coffin-Lowry Syndrome Foundation
Coffin-Lowry Syndrome:Genetics Home Reference, NLM
Coffin-Lowry Syndrome:GeneReviews


Cohen Syndrome
Cohen Syndrome:Madisons Foundation
Cohen Syndrome:Gale Encyclopedia of Genetic Disorders
Cohen Syndrome:Genetics Home Reference
Cohen Syndrome:GeneReviews


Cornelia de Lange Syndrome
FAQs About CdLS:Cornelia de Lange Syndrome Foundation
Treatment Protocols:Cornelia de Lange Syndrome Foundation
Cornelia de Lange Syndrome:Genetics Home Reference, NLM
Cornelia de Lange Syndrome:GeneReviews


Costello Syndrome
Costello Syndrome:Madisons Foundation
Therapy Ideas:International Costello Syndrome Support Group
Costello Syndrome:Genetics Home Reference, NLM
Costello Syndrome:GeneReviews


Cri du Chat Syndrome
About 5P- Syndrome:Five P Minus Society
Cri du Chat Syndrome:Swedish Information Center for Rare Diseases
Cri-du-Chat Syndrome:Genetics Home Reference, NLM


Crouzon Syndrome
Crouzon Syndrome:FACES
A Guide to Understanding Crouzon Syndrome:CCAkids [PDF]
Crouzon Syndrome (Craniofacial Dysostosis):Cleft Palate Foundaion
Crouzon Syndrome:Craniofacial Center
Crouzon Syndrome:Genetics Home Reference, NLM
Crouzononodermoskeletal Syndrome:Genetics Home Reference, NLM
See also Craniofacial Anomalies, Craniosynostosis


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