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Diseases and Disorders > Genetics and Birth Defects

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

Multiple Congenital Anomalies (D - M)

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	Deafness-Dystonia-Optic Neuronopathy Syndrome (DFN-1, Mohr-Tranebjaerg Syndrome)
	Deafness-Dystonia-Optic Neuronopathy Syndrome:GeneReviews

	Down Syndrome

	General Information
	Down Syndrome:March of Dimes
	Facts About Down Syndrome:NICHD
	Down Syndrome (Trisomy 21):Lucile Packard Children's Hospital
	General Information:National Down Syndrome Society
	Everything You Need to Know About Down Syndrome:netLibrary [for Teens]
	Down Syndrome:Genetics Home Reference, NLM
	Down Syndrome:Society for Neuroscience
	Down Syndrome:MedlinePlus

	Specific Topics for People With Down Syndrome
	Development:National Down Syndrome Society
	Education & Schooling:National Down Syndrome Society
	Health:National Down Syndrome Society
	Health Care for Adults with Down Syndrome:Medical College of Wisconsin

	Dyskeratosis Congenita
	Dyskeratosis Congenita:NORD
	Dyskeratosis Congenita:Swedish Information Center for Rare Diseases
	Dyskeratosis Congenita:National Cancer Institute
	See also Ectodermal Dysplasia

	Ectodermal Dysplasia

	General Information
	What is Ectodermal Dysplasia?:Ectodermal Dysplasia Society
	About Ectodermal Dysplasia Types:National Foundation for Ectodermal Dysplasias

	Clouston Syndrome
	Hidrotic Ectodermal Dysplasia 2 (Clouston Syndrome):GeneReviews

	Hypohidrotic Ectodermal Dysplasia
	Hypohidrotic Ectodermal Dysplasia:Swedish Information Center for Rare Diseases
	Hypohidrotic Ectodermal Dysplasia:Genetics Home Reference, NLM
	Hypohidrotic Ectodermal Dysplasia:GeneReviews

	Pachyonychia Congenita
	About PC:Pachyonychia Congenita Project
	Pachyonychia Congenita:GeneReviews

	Index to Other Types of Ectodermal Dysplasia
	Dyskeratosis Congenita
	Ellis-Van Creveld Syndrome
	Incontinentia Pigmenti
	Rothmund-Thomson Syndrome
	Tricho-dento-osseous Syndrome

	Emanuel Syndrome
	Emanuel Syndrome:Chromosome 22 Central
	Emanuel Syndrome:GeneReviews

	FG Syndrome
	FG Syndrome:NORD
	FAQ About FG Syndrome:FG Syndrome Family Alliance

	Fragile X Syndrome
	Fragile X Syndrome:March of Dimes
	Families and Fragile X Syndrome:NICHD [Order printed copy]
	What is Fragile X?:National Fragile X Foundation
	Fragile X and Company: Finding the Right Diagnosis:American Academy of Neurology
	FMR1-Related Disorders:GeneReviews
	Fragile X Syndrome:MedlinePlus

	Freeman-Sheldon Syndrome
	Freeman-Sheldon Syndrome:National Craniofacial Association
	Characteristics of FSS:Freeman-Sheldon Parent Support Group

	Fryns Syndrome
	Fryns Syndrome:Madisons Foundation
	Fryns Syndrome:GeneReviews

	Greig Cephalopolysyndactyly Syndrome
	Greig Cephalopolysyndactyly Syndrome:Madisons Foundation
	Greig Cephalopolysyndactyly Syndrome:Johns Hopkins Craniofacial Center
	Greig Cephalopolysyndactyly Syndrome:Genetics Home Reference, NLM
	Greig Cephalopolysyndactyly Syndrome:GeneReviews

	Hallerman-Streiff Syndrome
	Hallerman-Strieff Syndrome:Madisons Foundation
	Hallerman-Strieff Syndrome:Gale Encyclopedia of Genetic Disorders

	Hand-Foot-Genital Syndrome
	Hand-Foot-Genital Syndrome:Genetics Home Reference, NLM
	Hand-Foot-Genital Syndrome:GeneReviews

	Hemifacial Microsomia and Goldenhar Syndrome
	Hemifacial Microsomia:Lucile Packard Children's Hospital
	A Guide to Understanding Hemifacial Microsomia:CCAkids [PDF]
	Hemifacial Microsomia (and Goldenhar Variant):Craniofacial Center
	Goldenhar Syndrome:FACES

	Holt-Oram Syndrome
	Holt-Oram Syndrome:Madisons Foundation
	Holt-Oram Syndrome:Genetics Home Reference, NLM
	Holt-Oram Syndrome:GeneReviews

	IRF6-Related Disorders
	IRF6-Related Disorders:NORD
	Popliteal Pterygium Syndrome:MedicineNet
	Popliteal Pterygium Syndrome:Genetics Home Reference, NLM
	Van der Woude Syndrome:Univerity of Iowa Craniofacial Center
	Van der Woude Syndrome:Genetics Home Reference, NLM
	IRF6-Related Disorders:GeneReviews

	Jackson-Weiss Syndrome
	Jackson-Weiss Syndrome:Johns Hopkins Craniofacial Center
	Jackson-Weiss Syndrome:Genetics Home Reference, NLM
	See also Craniofacial Anomalies, Craniosynostosis

	Jervell and Lange-Nielsen Syndrome
	Jervell and Lange-Nielsen Syndrome:Madisons Foundation
	Jervell and Lange-Nielsen Syndrome:Genetics Home Reference, NLM
	Jervell and Lange-Nielsen Syndrome:GeneReviews

	Kallmann Syndrome
	Kallmann Syndrome:NORD
	Hypogonadotropic Hypogonadism:MedlinePlus Medical Encyclopedia
	Kallmann Syndrome:GeneReviews

	Kasabach-Merritt Syndrome
	Kasabach-Merritt Syndrome (Hemangioma-Thrombocytopenia Syndrome):Madisons Foundation
	Kasabach-Merritt Phenomenon:Cincinnati Children's Hospital Medical Center
	Kaposiform Hemangiomaendothelioma & Tufted Angioma:National Organization of Vascular Anomalies
	See also Vascular Anomalies

	Klinefelter Syndrome
	Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families:NICHD [Order printed copy]
	Klinefelter Syndrome:Knowledge, Support & Action
	Klinefelter Syndrome:Genetics Home Reference, NLM
	Klinefelter's Syndrome:MedlinePlus

	Klippel-Feil Syndrome
	Klippel-Feil Syndrome:Madisons Foundation

	Klippel-Trenaunay Syndrome
	Klippel-Trenaunay Syndrome:Cincinnati Children's Hospital Medical Center
	What is Klippel-Trenaunay Syndrome?:Sturge-Weber Foundation
	Klippel-Trenaunay Syndrome:Swedish Information Center for Rare Diseases
	See also Vascular Anomalies

	L1 Syndrome
	L1 Syndrome:Genetics Home Reference, NLM
	L1 Syndrome:GeneReviews

	Laurence-Moon Syndrome
	Laurence Moon Syndrome:Madisons Foundation
	See also Bardet-Biedl Syndrome

	LEOPARD Syndrome (Multiple Lentigines Syndrome)
	LEOPARD Syndrome:Madisons Foundation
	LEOPARD Syndrome:GeneReviews

	Lipoid Proteinosis
	Lipoid Proteinosis:NINDS

	Lowe Syndrome
	What is Lowe Syndrome?:Lowe Syndrome Association
	Living with Lowe Syndrome:Lowe Syndrome Association [Order printed copy]
	Lowe Syndrome:Genetics Home Reference, NLM
	Lowe Syndrome:GeneReviews

	Maffucci Syndrome
	Maffucci Syndrome:Madisons Foundation
	Maffucci's Syndrome:American Association of Multiple Enchondroma Diseases
	See also Vascular Anomalies

	Marinesco-Sjogren Syndrome
	Marinesco Sjogren Syndrome:Madisons Foundation
	FAQs:Marinesco-Sjogren Syndrome Support Group
	Marinesco-Sjögren Syndrome:GeneReviews

	McCune-Albright Syndrome
	McCune-Albright Syndrome:NICHD
	McCune-Albright Syndrome:MAGIC Foundation

	MECP2 Duplication Syndrome
	MECP2 Duplication Syndrome:GeneReviews
	MECP2-Related Disorders:GeneReviews

	Miller and Nager Syndromes
	Miller Syndrome and Nager Syndrome:Madisons Foundation
	Miller Syndrome:FACES
	Nager Syndrome:FACES
	The Syndromes:Foundation for Nager & Miller Syndromes

	McKusick-Kaufman Syndrome
	McKusick-Kaufman Syndrome:MedicineNet
	McKusick-Kaufman Syndrome:GeneReviews

	Moebius Syndrome
	Moebius Syndrome:National Craniofacial Association
	A Guide to Understanding Moebius Syndrome:Children's Craniofacial Anomalies [PDF]
	What is Moebius Syndrome?:Moebius Syndrome Foundation
	Parent's Guide & Owners Manual:moebius1.org
	Mobius Syndrome:Swedish Information Center for Rare Diseases

	Mowat-Wilson Syndrome
	Mowat-Wilson Syndrome:NORD
	Mowat-Wilson Syndrome:Genetics Home Reference, NLM
	Mowat-Wilson Syndrome:GeneReviews

	Muenke Syndrome
	Muenke Syndrome:Genetics Home Reference, NLM
	Muenke Syndrome:GeneReviews
	See also Craniofacial Anomalies, Craniosynostosis

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