Diseases and Disorders > Genetics and Birth Defects

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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

Dwarfism

(Jump to: General Information | Organizations | 3-M Syndrome | Achondroplasia | Atelosteogenesis | Campomelic Dysplasia | Chondrodysplasia | Diastrophic Dysplasia | Dyschondrosteosis | Ellis-van Creveld Syndrome | Hypochondroplasia | Jeune Syndrome | Metatropic Dysplasia | Pituitary Dwarfism | Primordial Dwarfism | Pseudoachondroplasia | Thanatophoric Dysplasia | Type II Collagen Conditions | Type XI Collagen Conditions )

	Organizations
	Little People of America (LPA)
	The Magic Foundation
	Nemours Skeletal Dysplasia Program, Alfred I. duPont Hospital for Children

	General Information
	Dwarfism:Nemours Foundation
	Frequently Asked Questions (about Dwarfism):LPA
	Dwarfism Types & Diagnoses:LPA
	Dwarfism Conditions & Complications:LPA
	Dwarfism: Achondroplasia and Hypochondroplasia:International Center for Limb Lengthening@Sinai Hospital
	Dwarfism:MedlinePlus

	3-M Syndrome
	3-M Syndrome:Madisons Foundation
	3-M Syndrome:GeneReviews

	Achondroplasia
	Achondroplasia:March of Dimes
	Achondroplasia:Nemours Skeletal Dysplasia Program
	Achondroplasia:Genetics Home Reference, NLM
	Achondroplasia:GeneReviews
	SADDAN:Genetics Home Reference, NLM

	Atelosteogenesis
	Atelosteogenesis Type 2:Genetics Home Reference, NLM
	Atelosteogenesis Type 2:GeneReviews

	Campomelic Dysplasia
	Campomelic Dysplasia:Nemours Skeletal Dysplasia Program

	Chondrodysplasia
	Overview
	Chondrodysplasias:Merck Manual, Home Edition
	Chondrodysplasia Punctata
	Chondrodysplasia Punctata, Autosomal Dominant:OMIM, NCBI
	Chondrodysplasia Punctata, Tibia-Metacarpal Type:OMIM, NCBI
	Rhizomelic Chondrodysplasia Punctata Type I:GeneReviews
	Jansen Type
	Jansen Type Metaphyseal Chondrodysplasia:NORD
	Metaphyseal Chondrodysplasia, Jansen Type:OMIM,NCBI
	McKusick Type
	McKusick Type Metaphyseal Chondrodysplasia:NORD
	Cartilage Hair Hypoplasia:Nemours Skeletal Dysplasia Program
	Schmid Type
	Metaphyseal Chondrodysplasia, Schmid Type:NORD
	Metaphyseal Chondrodysplasia, Schmid Type:OMIM,NCBI

	Diastrophic Dysplasia
	Diastrophic Dysplasia:NORD
	Diastrophic Dysplasia:Nemours Skeletal Dysplasia Program
	Diastrophic Help
	Diastrophic Dysplasia:Genetics Home Reference, NLM
	Diastrophic Dysplasia:GeneReviews

	Dyschondrosteosis
	Dyschondrosteosis (Leri-Weill Syndrome):NORD
	SHOX-Related Haploinsufficiency DisordersGeneReviews

	Ellis-van Creveld Syndrome
	Chondroectodermal Dysplasia:Madisons Foundation
	Ellis-van Creveld Dysplasia:Nemours Skeletal Dysplasia Program
	Description:Ellis-vanCreveld,UK
	Ellis-van Creveld Syndrome:Genetics Home Reference, NLM

	Hypochondroplasia
	Hypochondroplasia:Nemours Skeletal Dysplasia Program
	Hypochondroplasia:Genetics Home Reference, NLM
	Hypochondroplasia:GeneReviews

	Jeune Syndome
	See Musculoskeletal Defects, Thoracic Insufficiency Syndrome

	Metatropic Dysplasia
	Metatropic Dysplasia:Nemours Skeletal Dysplasia Program

	Pituitary Dwarfism
	Growth Hormone Deficiency, see Endocrine System, Pituitary Disorders
	Panhypopituitarism, see Endocrine System, Pituitary Disorders

	Primordial Dwarfism
	Primordial Dwarfism Overview
	Primordial Dwarfism:Nemours Skeletal Dysplasia Program
	Medical Information:PrimordialDwarfism.com
	Meier-Gorlin Syndrome
	Ear, Patella, Short Stature Syndrome:NORD
	Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome):OMIM, NCBI
	[Majewsky] Osteodysplastic Primordial Dwarfism
	Microcephalic Osteodysplastic Primordial Dwarfism, Type I:OMIM, NCBI
	Microcephalic Osteodysplastic Primordial Dwarfism, Type II:OMIM, NCBI
	Microcephalic Osteodysplastic Primordial Dwarfism, Type III:OMIM, NCBI
	Russell-Silver Syndrome
	Russell-Silver Syndrome:MAGIC Foundation
	Russell-Silver Syndrome:Genetics Home Reference, NLM
	Russell-Silver Syndrome:GeneReviews
	Seckel Syndrome
	Seckel Syndrome:NORD
	Seckel Syndrome:OMIM, NCBI

	Pseudoachondroplasia
	Pseudoachondroplasia:Nemours Skeletal Dysplasia Program
	Pseudoachondroplasia:Swedish Information Center for Rare Diseases
	Pseudoachondroplasia:Genetics Home Reference, NLM
	Pseudoachondroplasia:GeneReviews

	Thanatophoric Dysplasia
	Thanatophoric Dysplasia:Nemours Skeletal Dysplasia Program
	Thanatophoric Dysplasia:Genetics Home Reference, NLM
	Thanatophoric Dysplasia:GeneReviews

	Type II Collagen Conditions
	Organization
	Kniest SED Group (KSG)
	General Information
	FAQ (about SED, SMD and Kniest):KSG
	Medical Information:KSG
	Information about Anesthesia for People with Kniest, SED and SMD:KSG
	COL2A1 Gene Summary:Genetics Home Reference, NLM
	Achondrogenesis
	Achrondrogenesis:NORD
	Achondrogenesis:Genetics Home Reference, NLM
	Achondrogenesis Type 1:Madisons Foundation
	Achondrogenesis Type 1B:GeneReviews
	Hypochondrogenesis
	Hypochondrogenesis:Genetics Home Reference, NLM
	Kniest Dysplasia
	Kniest Dysplasia:Nemours Skeletal Dysplasia Program
	FAQ about Kniest Dysplasia:KSG
	Kniest Dysplasia:Genetics Home Reference, NLM
	Platyspondylic Lethal Skeletal Dysplasia
	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Genetics Home Reference, NLM
	Spondyloepiphyseal Dysplasias (SED)
	General Information
	Spondylo-epiphyseal Dysplasia:Nemours Skeletal Dysplasia Program
	Spondyloepiphyseal Dysplasia Congenita
	Spondyloepiphyseal Dysplasia Congenita:Madisons Foundation
	Congenital Spondyloepiphyseal Dysplasia:Swedish Information Center for Rare Diseases
	FAQ about Spondyloepiphyseal Dysplasia Congenita (SEDC):KSG
	Spondyloepiphyseal Dysplasia Congenita:Genetics Home Reference, NLM
	Spondyloepiphyseal Dysplasia Tarda
	Spondyloepiphyseal Dysplasia Tarda:NORD
	Late-onset Spondyloepiphyseal Dysplasia:Swedish Information Center for Rare Diseases
	X-Linked Spondyloepiphyseal Dysplasia Tarda:GeneReviews
	Schimke Immunoosseous Dysplasia:GeneReviews
	Spondyloepimetaphyseal Dysplasia (SMD)
	FAQ about Spondylometaphyseal Dysplasia Kozlowski (SMD-K) :KSG
	Spondyloepimetaphyseal Dysplasia, StrudwickType:Genetics Home Reference, NLM
	Spondyloperipheral Dysplasia
	Spondyloperipheral Dysplasia:Genetics Home Reference, NLM
	Stickler Syndrome
	See Connective Tisssue Disorders

	Type XI Collagen Conditions
	General Information
	COL11A1 Gene Summary:Genetics Home Reference, NLM
	COL11A2 Gene Summary:Genetics Home Reference, NLM
	Specific Conditions
	Nonsyndromic Deafness, Autosomal Dominant, see Ears, Nose Throat, Hereditary Hearing Loss and Deafness
	Otospondylometaepiphyseal Dysplasia (OSMED):Genetics Home Reference, NLM
	Stickler Syndrome, see Connective Tisssue Disorders
	Weissenbacher-Zweymuller Syndrome:Genetics Home Reference, NLM

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