Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
The diagnosis of achondroplasia can be based on the typical physical features, the hallmarks of achondroplasia, evident at birth. Characteristic features are also seen by radiology (X-ray), ultrasound, and other imaging techniques. With ultrasound imaging, the diagnosis can sometimes be strongly suspected before birth.
The molecular diagnosis of achondroplasia before birth is possible if there is suspicion of the diagnosis or an increased risk (such as when a parent is affected by achondroplasia). In families in which both parents have achondroplasia, prenatal diagnosis may be particularly useful, the aim being to distinguish fatal homozygous achondroplasia (with two copies of the defective gene) from heterozygous achondroplasia (with one copy of the achondroplasia gene) from normal. Diagnosis before birth is accomplished by examining cells obtained by chorionic villus sampling (CVS) or amniocentesis.
What can be done for patients with achondroplasia?
Children and adults with achondroplasia can lead normal lives provided they receive attentive, informed care by their physicians and parents. Considerations in monitoring children with achondroplasia include careful measurements of growth (length/height and weight) and head circumference using curves specially standardized for those with achondroplasia. Knowledgeable pediatric care and periodic orthopedic and neurologic examinations are critical.
When special problems complicate achondroplasia, prompt and expert intervention is important. For example:
The foramen magnum (the large opening under the skull) may need to be surgically enlarged in cases of severe narrowing (stenosis) and compression of the spinal cord. When this opening is too narrow, the blood vessels and nerves are compressed, which can lead to central apnea (loss of breathing control). This is responsible for the risk of sudden death in infants with achondroplasia. The risk of sudden death for infants with achondroplasia is 2-5%.
The back of patients with achondroplasia can develop a marked sway (lordosis) to the lower back while abnormalities in the mid-back may cause a small hump (kyphosis) in infancy and compression of the spinal cord in adolescence. The spinal cord compression can require surgery to decompress it. Spinal stenosis is the most common medical complication of achondroplasia seen in adulthood.
Orthopedic procedures may be performed for lengthening of the limb bones and correction of bowed legs (usually after full growth has been achieved).
Surgery (lumbar laminectomy) is also indicated when spinal stenosis (narrowing) causes symptoms, which tends to be evident in young adults.
Disproportion between the brain and the base of the skull can sometimes result in hydrocephalus ("water on the brain") which needs to be promptly detected and treated by placement of a shunt to drain the excess fluid.
The large head with achondroplasia increases the chance of bleeding within the baby's head during vaginal delivery. This should be taken into account in planning the birth and postnatal care, and Cesarean delivery may be recommended for a fetus with achondroplasia. The brainstem (which contains a center for controlling respiration) may be compressed in achondroplasia and contribute to abnormal breathing.
Pregnant women with achondroplasia should have their babies delivered by cesarean section, due to their characteristically small pelvis, and high risk of birth related trauma.
Middle ear infections are frequent and can lead to mild to moderate hearing loss. Therefore, ear infections should be readily suspected and promptly and fully treated with antibiotics or ear tubes.
Dental crowding is also common. Teeth should be straightened and, if necessary, removed to alleviate this problem.
Control of obesity is essential, and obesity can be a significant problem in people with achondroplasia. The excessive weight gain usually occurs during childhood. When obesity is present, the back and joint problems that are characteristic of this condition worsen in severity. The child with achondroplasia must not be allowed to become overweight. Adults with achondroplasia should also monitor and control their weight.
Treatment with human growth hormone, which is still considered experimental, has been preliminarily reported to increase the growth rate after treatment, but studies have not yet demonstrated that adult height is increased by this treatment.
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. Diagnosis, is a medical history and imaging studies. Lumbar stenosis may be treated with medication or surgery.
Middle ear infection or inflammation (otitis media) is inflammation fo the middle ear. There are two types of otitis media, acute and chronic. Acute otitis media is generally short in duration, and chronic otitis media generally lasts several weeks. Seventy-five percent of children in the U.S. suffer from otitis media at some point. Treatment depends upon the type (chronic or acute).
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.
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 percent over their ideal weight.
That ideal weight must take into account the person's height, age, sex, and
build.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Kyphosis is outward curvature of the thoracic spine (upper back). Abnormal 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. Postural kyphosis is caused by poor posture and a weakening of the back's muscles and ligaments. Scheuermann's kyphosis is caused by a structural deformity of the vertebrae. Congenital kyphosis is caused by an abnormal development of the vertebrae prior to birth. Treatment of kyphosis depends upon the type of kyphosis the patient has.
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.
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.
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