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.
Achondroplasia is a genetic disorder of bone growth.
Achondroplasia is the most common cause of short stature with disproportionately short limbs.
The appearance of the person with achondroplasia is characteristic.
Intelligence is normal in people with achondroplasia.
Complications of achondroplasia can affect the brain and the spinal cord.
Achondroplasia is inherited as a dominant trait but 80% of cases are due to new mutations (neither parent has achondroplasia).
Achondroplasia can be diagnosed before birth.
What is achondroplasia?
Achondroplasia is a genetic (inherited) condition that results in abnormally short stature and is the most common cause of short stature with disproportionately short limbs. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4 inches) in males and 124 cm (49 inches, or 4 foot 1 inch) in females.
Although achondroplasia literally means "without cartilage formation," the defect in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones.
Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births.
What are the characteristics of achondroplasia?
Achondroplasia is a distinctive condition that usually can be noted at birth.
The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the torso) segments of the limbs (the upper arms and thighs).
There is a typically large head with prominence of the forehead (frontal bossing), underdevelopment (hypoplasia) of the midface with cheekbones that lack prominence, and a low nasal bridge with narrow nasal passages.
The baby's fingers appear short and the ringer and middle fingers may diverge, giving the hand a trident (three-pronged) appearance. Most joints can extend more than normal. For example, the knees can hyperextend beyond the normal stopping point. Not all joints are lax in this way. To the contrary, extension and rotation of the elbow are abnormally limited. Hip extension also tends to be limited.
At birth there is often prominence of the mid-to-lower back with a small gibbus (a hump). With walking, the hump goes away and a pronounced sway (lordosis) of the lumbar region (the lower back) becomes apparent. The lumbar lordosis is persistent into adulthood. The legs are bowed (genu varum).
The baby exhibits some decrease in muscle tone (hypotonia). Because of the large head, especially compared to rest of the body, and the decreased muscle tone, the child with achondroplasia will run behind "schedule" in reaching the usual motor developmental milestones. The schedule to which an achondroplastic child's development should be compared is not that for all children in the general population, but rather the growth charts and timetable followed by children with achondroplasia.
Intelligence is generally normal in patients with achondroplasia. Enlargement of the brain (megalencephaly) is common and normal with achondroplasia.
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.
The term hydrocephalus is derived from the Greek words "hydro" meaning water and "cephalus" meaning head. As the name implies, it is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as "water on the brain," the "water" is actually cerebrospinal fluid (CSF)--a clear fluid that surrounds the brain and spinal cord. The excessive accumulation of CSF results in an abnormal widening of spaces in the brain called ventricles. This widening creates potentially harmful pressure on the tissues of the brain.
The ventricular system is made up of four ventricles connected by narrow passages.. Normally, CSF flows through the ventricles, exits into cisterns (closed spaces that serve as reservoirs) at the base of the brain, bathes the surfaces of the brain and spinal cord, and then reabsorbs into the bloodstream.
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