A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.Read more: Achondroplasia Article
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Related Disease Conditions
Genetic Diseases (Disorder Definition, Types, and Examples)
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Obesity is the state of being well above one's normal weight. A person has traditionally been considered to be obese if they are more than 20% over their ideal weight. That ideal weight must take into account the person's height, age, sex, and build.
Middle Ear Infection (Otitis Media)
Middle ear infection (otitis media) is inflammation of the middle ear. There are two forms of this type of ear infection, acute and chronic. Acute otitis media is generally short in duration, and chronic otitis media generally lasts several weeks. Babies, toddlers, and children with a middle ear infection may be irritable, pull and tug at their ears, and experience numerous other symptoms and signs. Treatment depends upon the type of ear infection.
Pregnancy (Week by Week, Trimesters)
Signs and symptoms of pregnancy vary by stage (trimester). The earliest pregnancy symptom is typically a missed period, but others include breast swelling and tenderness, nausea and sometimes vomiting, fatigue, and bloating. Second trimester symptoms include backache, weight gain, itching, and possible stretch marks. Third trimester symptoms are additional weight gain, heartburn, hemorrhoids, swelling of the ankles, fingers, and face, breast tenderness, and trouble sleeping. Eating a healthy diet, getting a moderate amount of exercise, also are recommended for a healthy pregnancy. Information about the week by week growth of your baby in the womb are provided.
Sleep apnea is defined as a reduction or cessation of breathing during sleep. The three types of sleep apnea are central apnea, obstructive apnea (OSA), and a mixture of central and obstructive apnea. Central sleep apnea is caused by a failure of the brain to activate the muscles of breathing during sleep. OSA is caused by the collapse of the airway during sleep. OSA is diagnosed and evaluated through patient history, physical examination and polysomnography. There are many complications related to obstructive sleep apnea. Treatments are surgical and non-surgical.
Kyphosis is an outward curvature of the thoracic spine (upper back). Kyphosis results in the appearance of a hunchback, which is accompanied by back pain, stiffness, and muscle fatigue in the back. There are three types of abnormal kyphosis: postural, Scheuermann's, and congenital kyphosis.
Sudden Infant Death Syndrome (SIDS)
The cause of sudden infant death syndrome (SIDS) is unknown. The risk of SIDS peaks in infants 2-4 months of age. SIDS is more common among male infants, particularly African American and Native American infants, during the winter months. Putting the baby to sleep on his/her back, avoiding fluffy, loose bedding, using a firm mattress, and avoiding co-sleeping may help to prevent SIDS.
Lumbar Spinal Stenosis
Lumbar stenosis can be caused by degenerative arthritis (the most common cause), tumor, infection, or metabolic disorders (Paget's disease of the bone). Symptoms include low back pain, weakness, pain, numbness, and loss of sensation in the legs. Other conditions may cause similar symptoms of lumbar stenosis, including diabetic neuropathy, claudication, and peripheral vascular disease. Lumbar stenosis may be treated with medication or surgery.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Periodic Paralysis Syndrome
Periodic paralysis syndrome comprises several types of rare muscle diseases in which a person experiences temporary muscle paralysis of one area of the body, or the entire body for a few minutes or days. The person regains normal muscle strength between periods of muscle weakness. You inherit the syndrome from your biological mother or father, or from a mutation in your genes. This gene mutation determines the type of periodic paralysis you have. The other symptoms depend upon the type of periodic paralysis you have.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.