![]() A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two. A female inherits an X chromosome from each parent. Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. A person with the disorder may pass along either a mutated or normal copy to his or her own children. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. AchondroplasiaĪbout 80 percent of people with achondroplasia are born to parents of average height. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg rather than from either parent's complete genetic makeup. Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. See your child's doctor if you have any concerns about your child's growth or overall development. Proportionate dwarfism may not be immediately apparent. Signs and symptoms of disproportionate dwarfism are often present at birth or in early infancy. Delayed or no sexual development during the teen years.Growth rate slower than expected for age.Height below the third percentile on standard pediatric growth charts.It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth. Growth hormone deficiency is a relatively common cause of proportionate dwarfism. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. So the head, trunk and limbs are all small, but they're proportionate to each other. Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development. Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm).Arthritis and problems with joint movement.Progressive hunching curvature of the upper spine.Hip deformities that result in thighbones turning inward.Opening in the roof of the mouth (cleft palate).Progressive development of swayed lower backĪnother cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita (SEDC).A disproportionately large head, with a prominent forehead and a flattened bridge of the nose.Short fingers, often with a wide separation between the middle and ring fingers.Short arms and legs, with particularly short upper arms and upper legs.This disorder usually results in the following: ![]() ![]() The most common cause of dwarfism is a disorder called achondroplasia, which causes disproportionately short stature. Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus). In these disorders, the head is disproportionately large compared with the body.Īlmost all people with disproportionate dwarfism have normal intellectual capacities. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs. Most people with dwarfism have disorders that cause disproportionately short stature. Signs and symptoms - other than short stature - vary considerably across the spectrum of disorders.
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