A to Z: Diastrophic Dysplasiaenparentshttps://kidshealth.org/EN/images/headers/P-khAZDictionary-enHD-AR1.jpgDiastrophic dysplasia is a rare genetic disorder that interferes with bone development and causes abnormal bone growth and dwarfism (short stature). Diastrophic dysplasia, diastrophic dwarfism, short-limbed dwarfism, short-limbed dysplasia, dwarfism, genes, genetic disorders, short stature, cartilage, ossification, lordosis, kyphosis, scoliosis, clubfeet, cauliflower ear, joint contracture, cleft palate10/11/201303/21/201909/02/20191a06f093-7213-4efc-bbf6-7822c0121b8ehttps://kidshealth.org/ws/RadyChildrens/en/parents/az-diastrophic-dysplasia.html/<p><em>May also be called: Diastrophic Dwarfism; Short-Limbed Dwarfism; Short-Limbed Dysplasia</em></p> <p>Diastrophic dysplasia (die-UH-strah-fik dis-PLAY-zhee-uh) is a rare <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">genetic</a> disorder that interferes with bone development causing abnormal bone growth and <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/dwarfism.html/">dwarfism</a> (short stature) with very short arms and legs.</p> <h3>More to Know</h3> <p>During a baby's development in the womb, much of the skeleton is made up of a flexible tissue called cartilage that is converted to <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/bones-muscles-joints.html/">bone</a> by a process called ossification. Diastrophic dysplasia affects the body&rsquo;s ability to form cartilage and bones. This results in shorter bones, short stature, joint and hand deformities, and abnormal curving of the spine (lordosis, scoliosis, or kyphosis). Diastrophic dysplasia is also sometimes associated with <a class="kh_anchor">cleft palate</a>, clubfeet, and ears with a cauliflower-like appearance.</p> <p>Diastrophic dysplasia is caused by a mutation in a gene responsible for making a protein needed to develop cartilage and convert it to bone. Most of the time, the mutated gene is inherited from one's parents, but in a small number of cases, the mutation happens randomly.</p> <p>There is no specific treatment for diastrophic dysplasia, but complications like scoliosis and clubfeet are often treated with surgery or the use of special braces or shoes to realign the bones. The goal of treatments are to help those who have it&nbsp;maintain mobility and strength.</p> <h3>Keep in Mind</h3> <p>There is no cure for diastrophic dysplasia, but the symptoms are typically only physical. Most people with diastrophic dysplasia have average intelligence and a normal life expectancy and can expect to lead productive lives.</p> <p><em>All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.</em></p>
A to Z: AchondroplasiaAchondroplasia is a genetic disorder that interferes with bone growth and causes dwarfism (short stature).https://kidshealth.org/ws/RadyChildrens/en/parents/az-achondroplasia.html/b7bb511a-fc3c-4d30-a041-4732bcb5a653
A to Z: Pituitary DwarfismPituitary dwarfism is a condition in which the pituitary gland does not make enough growth hormone, resulting in a child's slow growth pattern and unusually small stature.https://kidshealth.org/ws/RadyChildrens/en/parents/az-pituitary-dwarfism.html/902200ed-bb04-4c8b-a3f3-feb45256b728
Birth DefectsSome birth defects are minor and cause no problems; others cause major disabilities. Learn about the different types of birth defects, and how to help prevent them.https://kidshealth.org/ws/RadyChildrens/en/parents/birth-defects.html/eeaa74ff-3f65-4df3-8757-9df2d014c2ee
DwarfismA dwarf is a short-statured person whose adult height is 4 feet 10 inches or under. Find out what happens when a person has dwarfism and why some people are born with it.https://kidshealth.org/ws/RadyChildrens/en/teens/dwarfism.html/0d97a6fa-3509-4331-9ccd-8c6bd28ff360
Genetic TestingAdvances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/cbe49a95-6833-41f4-881a-c26287c4a33c
KyphosisEveryone's spine is slightly rounded forward at a gentle angle. If this angle is too pronounced, more than 50 degrees or so, it's called kyphosis, also known as roundback or hunchback.https://kidshealth.org/ws/RadyChildrens/en/parents/kyphosis.html/af13c241-d4fa-45ae-805a-1c88b8048f60
Prenatal Genetic CounselingGenetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more.https://kidshealth.org/ws/RadyChildrens/en/parents/genetic-counseling.html/ce3b2896-0a32-4c87-aa11-b2a7da9d790b
ScoliosisScoliosis makes a person’s spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed. https://kidshealth.org/ws/RadyChildrens/en/teens/scoliosis.html/eb1d36eb-b517-42a5-9d47-7903103cdddc
When Your Baby Has a Birth DefectIf your child has a birth defect, you don't have to go it alone - many people and resources are available to help you.https://kidshealth.org/ws/RadyChildrens/en/parents/baby-has-birth-defect.html/9c0573a4-68a2-4d7d-a868-26999e332361
kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-developmentalMedicinekh:clinicalDesignation-geneticskh:genre-dictionarykh:primaryClinicalDesignation-orthopedicsNonSportsMedDhttps://kidshealth.org/ws/RadyChildrens/en/parents/dictionary/d/ea832f9e-73e8-4b90-84cb-752635083753Orthopedics A to Zhttps://kidshealth.org/ws/RadyChildrens/en/parents/dictionary/az-ortho/9fdd6bbc-254a-4dff-be33-c4c6c66c3f6e