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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 (S - W)

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	Saethre-Chotzen Syndrome
	Saethre-Chotzen Syndrome:FACES
	Saethre-Chotzen Syndrome:Johns Hopkins Craniofacial Center
	Saethre-Chotzen Syndrome:Genetics Home Reference, NLM
	Saethre-Chotzen Syndrome:GeneReviews

	Septo-Optic Dysplasia
	De Morsier Syndrome:Madisons Foundation
	Septo-Optic Dysplasia / Optic Nerve Hypoplasia:MAGIC Foundation

	Sex Chromosome Variations

	General Information
	Syndromes of Abnormal Sex Differentiation:Johns Hopkins Hospital
	Genes and Disease: SRY: Sex Determination:National Center for Biotechnology Information
	Other X and/or Y Chromosome Aneuploidies:Knowledge, Support & Action

	Variations in Females [Normal is 46,XX]
	45,X, see Turner Syndrome
	Trisomy X:Madisons Foundation
	Trisomy X:Knowledge, Support & Action
	47,XXX Syndrome:PacNoRGG [PDF]
	Triple X Syndrome: Genetics Home Reference, NLM
	Tetrasomy X:Madisons Foundation
	General Information:Tetrasomy & Pentasomy X Syndrome Information and Support

	Variations in Males [Normal is 46,XY]
	XX Male Syndrome:MedicineNet
	46,XX Testicular Disorder of Sex Development:GeneReviews
	47,XXY, see Kleinfelter Syndrome
	XYY Syndrome:Knowledge, Support & Action
	47,XYY Syndrome:PacNoRGG [PDF]
	47,XYY Syndrome: Genetics Home Reference, NLM
	48,XXYY Syndrome:The XXYY Project

	Shprintzen-Goldberg Syndrome
	Shprintzen-Goldberg Syndrome:Johns Hopkins Craniofacial Center
	Shprintzen-Goldberg Syndrome:GeneReviews

	Shwachman-Diamond Syndrome
	Shwachman-Diamond Syndrome:Children's Hospital Boston
	Disease Information:Shwachman-Diamond Syndrome Foundation
	Clinical Characteristics of Shwachman-Diamond Syndrome:Shwachman-Diamond Syndrome Canada
	Shwachman Syndrome:Swedish Information Center for Rare Diseases
	Shwachman-Diamond Syndrome:National Cancer Institute
	Shwachman-Diamond Syndrome:Genetics Home Reference, NLM

	Simpson-Golabi-Behmel Syndrome
	Simpson Dysmorphia Syndrome:NORD
	Simpson-Golabi-Behmel Syndrome:Genetics Home Reference, NLM
	Simpson-Golabi-Behmel Syndrome:GeneReviews

	Sjogren-Larsson Syndrome
	Definition of Sjogren-Larsson Syndrome:MedicineNet
	Sjogren-Larsson Syndrome:United Leukodystrophy Foundation

	Smith-Lemli-Opitz Syndrome
	Smith Lemli Opitz Syndrome:Madisons Foundation
	FAQs:Smith-Lemli-Opitz/RSH Advocacy and Exchange
	Smith-Lemli-Opitz Syndrome:Swedish Information Center for Rare Diseases
	Smith-Lemli-Opitz Syndrome:Genetics Home Reference, NLM
	Smith-Lemli-Opitz Syndrome:GeneReviews

	Smith-Magenis Syndrome
	Smith-Magenis Syndrome:Madisons Foundation
	What is Smith-Magenis Syndrome?:PRISMS
	Smith-Magenis Syndrome:Genetics Home Reference, NLM
	Smith-Magenis Syndrome:GeneReviews

	Soto's Syndrome
	Soto's Syndrome:Madisons Foundation
	What is Sotos Syndrome?:Sotos Syndrome Support Association
	Sotos Syndrome: A Handbook for Families:Sotos Syndrome Support Association [Order printed copy]
	Soto's Syndrome:Genetics Home Reference, NLM
	Soto's Syndrome:GeneReviews

	Sturge-Weber Syndrome
	Sturge-Weber Syndrome:NINDS
	Sturge-Weber Syndrome:Cincinnati Children's Hospital Medical Center
	About SWS:Sturge-Weber Foundation
	See also Vascular Anomalies

	Thrombocytopenia Absent Radius (TAR) Syndrome
	Thrombocytopenia Absent Radius Syndrome:Madisons Foundation
	Thrombocytopenia Absent Radii:National Cancer Institute
	TAR Syndrome:Swedish Information Center for Rare Diseases

	Townes-Brocks Syndrome
	Townes-Brocks Syndrome:Madisons Foundation
	Townes-Brocks Syndrome:Genetics Home Reference, NLM
	Townes-Brocks Syndrome:GeneReviews

	Treacher Collins Syndrome
	Treacher Collins Syndrome:FACES
	Treacher Collins Syndrome:Cleft Palate Foundation
	A Guide to Understanding Treacher Collins Syndrome:CCAkids [PDF]
	Treacher Collins Syndrome:Genetics Home Reference, NLM
	Treacher Collins Syndrome:GeneReviews

	Trisomy 18 (Edwards) and 13 (Patau) Syndromes
	Trisomy 18 & 13:Lucile Packard Children's Hospital
	Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
	Common Problems of Babies with Trisomy 18 or 13:SOFT
	Trisomy 13 Facts:SOFT
	Trisomy 13:Genetics Home Reference, NLM
	Trisomy 18 Facts:SOFT
	Trisomy 18:Genetics Home Reference, NLM

	Trisomy 22
	Complete Trisomy 22:Chromosome 22 Central
	Mosaic Trisomy 22:Chromosome 22 Central
	Trisomy 22 Mosaicism: Chromosomal Mosaicism

	Turner Syndrome
	Turner Syndrome:Lucile Packard Children's Hospital
	Clinical Features of Turner Syndrome:NICHD
	Genetic Features of Turner Syndrome:NICHD
	Guide for Families:Turner's Syndrome Society of the United States [PDF]
	Turner Syndrome:Nemours Foundation [for Teens]
	Turner Syndrome:Genetics Home Reference, NLM
	Turner's Syndrome:MedlinePlus

	Usher Syndrome
	What Is Usher Syndrome?:Usher Syndrome, NIH
	Usher Syndrome:NIDCD
	Usher Syndrome: New Insights Lead to Earlier Treatment:NIDCD
	Usher Syndrome:Swedish Information Center for Rare Diseases
	Usher Syndrome:Genetics Home Reference, NLM
	Usher Syndrome Type I:GeneReviews
	Usher Syndrome Type II:GeneReviews
	Usher Syndrome:MedlinePlus
	See also Eye Diseases, Retinitis Pigmentosa

	Velocardiofacial Syndrome
	Velo-cardio-facial Syndrome:Lucile Packard Children's Hospital
	FAQs:VCFS Educational Foundation
	See also 22q11.2 Deletion Syndrome

	Waardenberg Syndrome
	Waardenburg Syndrome:NIDCD
	Waardenburg Syndrome:Genetics Home Reference, NLM
	Waardenburg Syndrome Type 1:GeneReviews

	WAGR Syndrome
	What is WAGR Syndrome?:International WAGR Syndrome Association
	WAGR Syndrome:Swedish Information Center for Rare Diseases

	Weaver Syndrome
	Weaver Syndrome:Madisons Foundation

	Weill Marchesani Syndrome
	Weill Marchesani Syndrome:NORD
	Weill Marchesani Syndrome:GeneReviews

	Williams Syndrome
	Williams Syndrome:NORD
	Parents Roadmap to Williams Syndrome:Williams Syndrome Association
	Age Appropriate Information:Williams Syndrome Association
	Williams Syndrome Comprehensive Web Site:Williams Syndrome Foundation
	Williams Syndrome:Genetics Home Reference, NLM
	Williams Syndrome:GeneReviews

	Wolf-Hirschhorn Syndrome
	General Information About Wolf-Hirschhorn Syndrome:4P- Support Group
	Wolf-Hirschhorn Syndrome:Madisons Foundation
	Wolf-Hirschhorn Syndrome:GeneReviews

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