Dwarfism

dwarfism, condition of growth retardation resulting in abnormally short adult stature and caused by a variety of hereditary and metabolic disorders. Traditionally, the term “dwarf” was used to describe individuals with disproportions of body and limb, while “midget” referred to those of reduced stature but normal proportions; today neither word is used, and “little people” has become the preferred term for persons with extreme growth retardation.

Among the common forms of hereditary dwarfism are achondroplasia, hypochondroplasia, and diastrophic dwarfism. In achondroplasia, the trunk is of normal size, but, because of a disturbance of the bone-producing cells of the growth plates (epiphyses) of the long bones, the limbs are extremely short; the head tends to be unusually large. Intelligence and life span are normal. Hypochondroplasia resembles achondroplasia except that the head is of normal size. Diastrophic dwarfism is characterized by progressive, crippling skeletal deformities. There is a high risk of death from respiratory failure during early infancy; thereafter the prospect of a normal life span is good. Intelligence is unimpaired in diastrophic dwarfism.

Pituitary dwarfism, caused by a deficiency of pituitary growth hormone, is the chief endocrine form of dwarfism and may be hereditary; tumours, infections, or infarction (tissue death) of the pituitary can also induce dwarfism. In many cases, other endocrine and sexual functions remain normal. However, in panhypopituitarism all pituitary hormones are deficient, and sexual development is impaired.

In several hormonal disorders and hereditary conditions dwarfism is associated with subnormal intelligence. Inadequate production of thyroid hormone during gestation and early infancy results in a condition known as cretinism, which is characterized by growth retardation and severe mental retardation. Several of the mucopolysaccharidoses (disorders of mucopolysaccharide metabolism) are characterized by dwarfism, often with mental retardation. Some infants having hereditary forms of dwarfism are stillborn or die soon after birth because of serious metabolic disorders.

Dwarfism may also result from inadequate nutrition during crucial phases of growth and development. A leading nutritional cause of dwarfism is vitamin-D-resistant rickets during childhood; intelligence is not affected by this condition.