dwarfism

Dwarfism refers to medical conditions that result in short stature, typically defined as an adult height of about 147 cm (4 feet 10 inches) or shorter. The term covers many distinct genetic and medical conditions, each with its own health implications and patterns of inheritance.

Most cases involve skeletal dysplasias that cause disproportionate limb-length differences, though some forms produce proportionate short stature. Achondroplasia is the most common disproportionate form and is usually caused by a FGFR3 gene mutation. Other forms may be autosomal dominant, autosomal recessive, or occur spontaneously. Growth problems can also arise from hormone deficiencies or systemic illnesses.

Types are commonly described as disproportionate and proportionate dwarfism. Disproportionate dwarfism features short limbs relative to the trunk, while proportionate dwarfism shows relatively uniform short stature. In addition to achondroplasia, other skeletal dysplasias include cartilage-hair hypoplasia and diastrophic dysplasia; some conditions are life-threatening in infancy, others allow long-term survival.

Diagnosis is usually clinical and confirmed by imaging and genetic testing. Management is multidisciplinary and focuses on health and function rather than height. Treatments may include growth hormone therapy for selected conditions, orthopedic care, physical therapy, and management of spine, breathing, dental, and ear problems. Regular monitoring addresses potential complications.

Social aspects include diverse experiences; stigma and accessibility challenges persist. Many people with dwarfism advocate for inclusion, disability rights, and appropriate medical care. Legal protections and accommodations help reduce discrimination in education and employment.

Terminology varies. Some people prefer "people with dwarfism" or "little people," while others use the clinical term "dwarfism." The emphasis is on respectful language and individual preference.

Prevalence varies by condition. Achondroplasia occurs in about 1 in 15,000 to 40,000 births; overall dwarfism is rare, affecting a small portion of the population.