The clinical description of achondroplasia medical condition

Opening in the roof of the mouth cleft palate Hip deformities that result in thighbones turning inward A foot that's twisted or out of shape Instability of the neck bones Progressive hunching curvature of the upper spine Progressive development of swayed lower back Vision and hearing problems Arthritis and problems with joint movement Adult height ranging from 3 feet 91 cm to just over 4 feet cm Proportionate dwarfism Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development. So the head, trunk and limbs are all small, but they're proportionate to each other.

The clinical description of achondroplasia medical condition

Achondroplasia is a genetic disorder of bone growth. Achondroplasia is the cause of the most common type of dwarfism short-limbed disproportionate dwarfism 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 can be diagnosed before birth. Share Your Story 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 cm 52 inches, or 4 foot 4 inches in males and 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, births in Latin America to about 12 in 77, in Denmark.

An average figure worldwide is approximately 1 in 25, births. What are the characteristics of achondroplasia? Share Your Story 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 bossingunderdevelopment hypoplasia of the midface with cheekbones that lack prominence, and a low nasal bridge with narrow nasal passages.

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 walkingthe 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.

Intelligence is generally normal in patients with achondroplasia. Enlargement of the brain megalencephaly is common and normal with achondroplasia. How is achondroplasia diagnosed? 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 X-rays, ultrasoundand 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.

The clinical description of achondroplasia medical condition

What can be done for patients with achondroplasia? Share Your Story Children and adults with achondroplasia can lead normal lives provided they receive attentive, informed care by their physicians and parents. Knowledgeable pediatric care and periodic orthopedic and neurologic examinations are critical.Achondroplasia is the most common cause of dwarfism, or significantly abnormal short stature.

Description Achondroplasia is one of a number of chondodystrophies, in which the development of cartilage, and therefore, bone is disturbed. Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult.

Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder.

A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia The safety and scientific validity of this study is the responsibility of the study sponsor and investigators.

Clinical trials are research studies conducted in an effort to improve overall patient health and care. Each trial involves running supervised tests to determine the effectiveness and safety of new drugs, procedures and/or devices with the aim of answering scientific questions about a disease or condition.

Jul 05,  · Achondroplasia is evident at birth as a disproportionate short-limb dwarfing condition (see the image below).

Characteristics include an enlarged neurocranium, frontal bossing, flattening of the nasal bridge, midface hypoplasia, and a relatively prominent mandible.

Achondroplasia: Facts on Treatment and Life Expectancy