What type of disorder is dwarfism

Restricted elbow extension. Excessive inward curvature of lower spine. Increased size of skull. Large head. Large head circumference. Long bone shortening. Short middle bone of finger. Decreased length of bridge of nose. Decreased length of nasal bridge. Short bridge of nose. Short innermost finger bones. Darkened and thickened skin. Too much cerebrospinal fluid in the brain. Low blood oxygen level. Having too much body fat. Stiff lung or chest wall causing decreased lung volume.

Disproportionately short upper portion of limb. Small chest. Small thorax. Wider-than-typical soft spot of skull. Conductive deafness. Conductive hearing loss. Flared wide portion of long bone. Hypermobility of all joints. Outward bow-leggedness. Outward bowing at knees. Restricted hip extension. Hunched back in infancy. Round back in infancy. Zygomatic flattening. Decreased size of midface. Midface deficiency. Underdevelopment of midface. Short limb dwarfism recognizable at birth.

Short-limb dwarfism identifiable at birth. Short-limbed dwarfism identifiable at birth. Recurrent middle ear infection.

Short neck of thighbone. Little foramen magnum. Narrow foramen magnum. Do you have more information about symptoms of this disease? We want to hear from you. Cause Cause. Achondroplasia is caused by mutations in the FGFR3 gene. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.

Inheritance Inheritance. Most cases of achondroplasia are not inherited. Diagnosis Diagnosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them.

Less common forms of dwarfism typically appear later in life. They may be more difficult to diagnose, particularly if a child has no other symptoms other than short stature. Blood testing to measure HGH levels, testing to assess organ health, and a complete medical history typically reveals the cause.

Some metabolic and hormonal causes of dwarfism may be reversible. Injections with HGH, for example, can help people with a growth hormone deficiency grow to a normal height. The most common causes of dwarfism, however, are not curable. Instead, treatments focus on managing the symptoms, including:.

People with many forms of dwarfism are vulnerable to obesity. Additional weight can increase their risk of heart problems. People with dwarfism may need help with related medical conditions, such as osteoarthritis. Nevertheless, very short people can and do lead normal lives. Many people with dwarfism say that the most difficult part of their condition is the stigma it carries. Because people with dwarfism have special medical needs, most need regular consultations with a team of doctors, including bone and cartilage specialists.

However, with management of symptoms, it is possible for a person with dwarfism to live a long and healthy life. Dwarfism does not have to be viewed as a disabling condition. Down syndrome occurs when a baby is born with an extra chromosome This extra chromosome results in small stature and low muscle tone, among other…. Williams syndrome is a rare genetic condition which can give a person special facial features, a sociable personality, and some learning challenges….

Treacher Collins syndrome TCS is a genetic disorder that affects how the bones and tissues in the face develop. It can lead to an unusual shape in…. Crouzon syndrome is relatively rare genetic condition that affects the features of a person's face and head.

Genetic testing can identify mutations in 99 percent of individuals who have achondroplasia. Testing for the FGFR3 gene mutation is available in clinical laboratories. No specific treatment is available for achondroplasia. Children born with achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for achondroplasia. Measures to avoid obesity at an early age are recommended. A magnetic resonance imaging MRI or CT scan may be needed for further evaluation of severe muscle weakness hypotonia or signs of spinal cord compression.

To help with breathing, surgical removal of the adenoids and tonsils, continuous positive airway pressure CPAP by nasal mask, or a surgical opening in the airway tracheostomy may be needed to correct obstructive sleep apnea. When there are problems with the lower limbs, such as hyperreflexia, clonus or central hypopnea, then surgery called suboccipital decompression is performed to decrease pressure on the brain.

Most cases of achondroplasia are not inherited. When achondroplasia is inherited, it is inherited in an autosomal dominant manner. Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. 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.

About 80 percent of people with achondroplasia are born to parents of average height. 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.

A person with the disorder may pass along either a mutated or normal copy to his or her own children. Turner syndrome, a condition that affects only girls and women, results when a sex chromosome the X chromosome is missing or partially missing.

A female inherits an X chromosome from each parent. A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two. The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified.

Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition. Sometimes the cause is unknown. Complications of dwarfism-related disorders can vary greatly, but some complications are common to a number of conditions. The characteristic features of the skull, spine and limbs shared by most forms of disproportionate dwarfism result in some common problems:.

With proportionate dwarfism, problems in growth and development often result in complications with poorly developed organs. For example, heart problems that often occur with Turner syndrome can have a significant effect on health. An absence of sexual maturation associated with growth hormone deficiency or Turner syndrome affects both physical development and social functioning.

Women with disproportionate dwarfism may develop respiratory problems during pregnancy. A C-section cesarean delivery is almost always necessary because the size and shape of the pelvis doesn't allow for successful vaginal delivery. Most people with dwarfism prefer not to be labeled by a condition.

However, some people may refer to themselves as dwarfs, little people or people of short stature. The word "midget" is generally considered an offensive term. People of average height may have misconceptions about people with dwarfism. And the portrayal of people with dwarfism in modern movies often includes stereotypes.