Dwarfism

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• Diagnosis and Tests

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• Specifics
• Genetics

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Summary

People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often does happen in families where both parents are of average height.

More than 300 different conditions can cause dwarfism. Achondroplasia is the most common type of dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. You may also have a larger head and weak muscle tone. Other genetic conditions, kidney disease, and problems with metabolism or hormones can also cause dwarfism.

The conditions that cause dwarfism can also cause other health problems. Most of them are treatable. It is important to have regular checkups throughout your life. With proper medical care, most people with dwarfism have active lives and live as long as other people.

Start Here

• Achondroplasia (March of Dimes Birth Defects Foundation) Also in Spanish
• Dwarfism (Mayo Foundation for Medical Education and Research) Also in Spanish
• Dwarfism (For Parents) (Nemours Foundation) Also in Spanish

Diagnosis and Tests

• Genetic Testing (For Parents) (Nemours Foundation)

Specifics

• Ellis-Van Creveld Dysplasia (Nemours Foundation)
• Hypochondroplasia (Nemours Foundation)
• Primordial Dwarfism (Nemours Foundation)

Genetics

• Genetics Home Reference: 3-M syndrome (National Library of Medicine)
• Genetics Home Reference: achondrogenesis (National Library of Medicine)
• Genetics Home Reference: achondroplasia (National Library of Medicine)
• Genetics Home Reference: anauxetic dysplasia (National Library of Medicine)
• Genetics Home Reference: asphyxiating thoracic dystrophy (National Library of Medicine)
• Genetics Home Reference: atelosteogenesis type 2 (National Library of Medicine)
• Genetics Home Reference: campomelic dysplasia (National Library of Medicine)
• Genetics Home Reference: cartilage-hair hypoplasia (National Library of Medicine)
• Genetics Home Reference: diastrophic dysplasia (National Library of Medicine)
• Genetics Home Reference: Ellis-van Creveld syndrome (National Library of Medicine)
• Genetics Home Reference: fibrochondrogenesis (National Library of Medicine)
• Genetics Home Reference: hypochondrogenesis (National Library of Medicine)
• Genetics Home Reference: hypochondroplasia (National Library of Medicine)
• Genetics Home Reference: isolated growth hormone deficiency (National Library of Medicine)
• Genetics Home Reference: Kniest dysplasia (National Library of Medicine)
• Genetics Home Reference: Laron syndrome (National Library of Medicine)
• Genetics Home Reference: Meier-Gorlin syndrome (National Library of Medicine)
• Genetics Home Reference: metatropic dysplasia (National Library of Medicine)
• Genetics Home Reference: microcephalic osteodysplastic primordial dwarfism type II (National Library of Medicine)
• Genetics Home Reference: osteoglophonic dysplasia (National Library of Medicine)
• Genetics Home Reference: platyspondylic lethal skeletal dysplasia, Torrance type (National Library of Medicine)
• Genetics Home Reference: pseudoachondroplasia (National Library of Medicine)
• Genetics Home Reference: Robinow syndrome (National Library of Medicine)
• Genetics Home Reference: SADDAN (National Library of Medicine)
• Genetics Home Reference: Schimke immuno-osseous dysplasia (National Library of Medicine)
• Genetics Home Reference: spondyloepimetaphyseal dysplasia, Strudwick type (National Library of Medicine)
• Genetics Home Reference: spondyloepiphyseal dysplasia congenita (National Library of Medicine)
• Genetics Home Reference: spondylothoracic dysostosis (National Library of Medicine)
• Genetics Home Reference: thanatophoric dysplasia (National Library of Medicine)

Statistics and Research

• Insights Into Severe Form of Dwarfism Could Lead to New Treatment Strategies (National Institute of Arthritis and Musculoskeletal and Skin Diseases)

Clinical Trials

• ClinicalTrials.gov: Achondroplasia (National Institutes of Health)
• ClinicalTrials.gov: Dwarfism (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Impact of the underlying etiology of growth hormone deficiency on...
• Article: Long-acting PEGylated recombinant human growth hormone (Jintrolong) for children with...
• Article: Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell...
• Dwarfism -- see more articles

Find an Expert

• National Institute of Child Health and Human Development Also in Spanish

Children

• Dwarfism (For Parents) (Nemours Foundation) Also in Spanish

Teenagers

• Dwarfism (Nemours Foundation) Also in Spanish

Patient Handouts

• Achondroplasia (Medical Encyclopedia) Also in Spanish