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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


Nervous System Defects

(Jump to: General information | Brain Development Disorders | Cerebral Palsy | Chiari Malformation | Hydrocephalus | Infantile Neuroaxonal Dystrophy | Neural Tube Defects )

General Information
Congenital Brain Defects:Gale Encyclopedia of Medicine
Brain and Spinal Cord Defects:Merck Manual, Home Edition
Neuronal Migration Disorders:NINDS


Brain Development Disorders
Absence of the Septum Pellucidum
Absence of the Septum Pellucidum:NINDS
See also Septo-Optic Dysplasia
Cephalic Disorders
Cephalic Disorders Overview
Cephalic Disorders Fact Sheet:NINDS
Anencephaly
Anencephaly:NINDS
Anencephaly:Children's Hospital Boston
Management of a Pregnancy With an Anencephalic Baby:Anencephaly Support Foundation
Colpocephaly
Colpocephaly:NINDS
Holoprosencephaly
Holoprosencephaly:NINDS
The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
Information About Holoprosencephaly:Carter Centers
Holoprosencephaly FAQs:Carter Centers
Living with Hope: Understanding Holoprosencephaly:Carter Centers [Video Clips]
Holoprosencephaly Overview:GeneReviews
Hydraencephaly
Hydraencephaly:NINDS
Lissencephaly
Lissencephaly:NINDS
About Lissencephaly:Lissencephaly Contact Group
About Lissencephaly:The Lissencephaly Network
Miller-Dieker Syndrome:Madisons Foundation
DCX-Related Disorders:GeneReviews
Megalencephaly
Megalencephaly (Macrencephaly):NINDS
Microcephaly
Microcephaly:NINDS
Microcephaly:Children's Hospital Boston
Primary Microcephaly:Swedish Information Center for Rare Diseases
Amish Lethal Microcephaly:Genetics Home Reference, NLM
Amish Lethal Microcephaly:GeneReviews
Porencephaly
Porencephaly:NINDS
Schizencephaly
Schizencephaly:NINDS
Schizencephaly:Madisons Foundation
Schizencephaly:Polymicrogyria Research Collaboration
Corpus Callosum Abnormalities
General Information
What is the Corpus Callosum?:National Organization of Disorders of the Corpus Callosum (NODCC)
Disorders of the Corpus Callosum:NODCC [PDF]
Characteristics of a Corpus Callosum Disorder:NODCC
Agenesis of the Corpus Callosum:NINDS
What is Agenesis of the Corpus Callosum?:University of Maine ACC Network
Aicardi Syndrome
Aicardi Syndrome:NINDS
Aicardi Syndrome:Aicardi Syndrome Foundation
Aicardi Syndrome:Gene Reviews
Andermann Syndrome
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum:GeneReviews
Joubert Syndrome
Joubert Syndrome:NINDS
Information Center:Joubert Syndrome Foundation
Joubert Syndrome:GeneReviews
Periventricular Heterotopia
Periventricular Heterotopia:Polymicrogyria Research Collaboration
Periventricular Heterotopia:Genetics Home Reference, NLM
X-Linked Periventricular Heterotopia:GeneReviews
Polymicrogyria
About Polymicrogyria:Lissencephaly Contact Group
Polymicrogyria:Polymicrogyria Research Collaboration
Polymicrogyria Overview:GeneReviews


Cerebral Palsy
See Nervous System and Brain, Brain Injury & Brain Damage


Chiari Malformation
See Nervous System and Brain, CNS Malformations


Hydrocephalus
Hydrocephalus:Children's Hospital Boston
Prenatal Hydrocephalus:Hydrocephalus Association [PDF]
About Hydrocephalus: A Book for Families:Hydrocephalus Association [PDF]
Hydrocephalus : A Guide for Patients, Families, and Friends:netLibrary
Dandy-Walker Syndrome:NINDS
L1 Syndrome, see Multiple Congential Anomalies
See also Nervous System and Brain, Brain Diseases


Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy:NINDS
Infantile Neuroaxonal Dystrophy:UCL Institute of Child Health, UK
Infantile Neuroaxonal Dystrophy:Genetics Home Reference, NLM


Neural Tube Defects
Neural Tube Defects (General Information)
Neural Tube Defects:Merck Manual, Home Edition
Folic Acid:Spina Bifida Association of America
Neural Tube Defects:MedlinePlus
Anencephaly
See Brain Development Disorders
Encephalocele
Encephaloceles:NINDS
Encephalocele:Seattle Children's Hospital
Iniencephaly
Iniencephaly:NINDS
Spina Bifida
General Information
Spina Bifida Fact Sheet:NINDS
Spina Bifida:March of Dimes
Myelomeningocele:Seattle Children's Hospital
About Spina Bifida:Management of Myelomeningocele Study, NICHD
FAQ About Spina Bifida:Spina Bifida Association
Fact Sheets:Spina Bifida Association
Spina Bifida:MedlinePlus
Living with Spina Bifida
Living With Spina Bifida:Spina Bifida Association
Spina Bifida:National Information Center for Children and Youth with Disabilities
Living With Spina Bifida : A Guide for Families and Professionals:netLibrary
Tethered Spinal Cord
Tethered Spinal Cord Syndrome:NINDS
Tethered Spinal Cord:American Association of Neurological Surgeons


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