congenital disease

1. Achondroplasia
BY: HONEI BELLE P. DELA CRUZ

2.  Achondroplasia
Achondroplasia is caused by a gene alteration (mutation) in the
FGFR3 gene.
The FGFR3 gene makes a protein called fibroblast growth factor
receptor 3 that is involved in converting cartilage to bone.
Achondroplasia is a form of short-limbed dwarfism.
The word achondroplasia literally means "without cartilage
formation."

3. All people with achondroplasia have short stature.
The average height of an adult male with achondroplasia is 131 centimetre's (4 feet, 4 inches),
and the average height for adult females is 124 centimetre's (4 feet, 1 inch).
It occurs in about 1 in 30,000 births .
It occurs in all races and in both sexes.
Disproportionate shortening of the limb bones is detectable in utero by ultrasound scan .

4.  Achondroplasia
The characteristic clinical features of achondroplasia (A), exaggerated
lumbar lordosis and short limbs (B), kyphosis (C), brachydactyly and
trident hand con fi guration (D).

5. • Diagnosis
• Ultrasound examination may identify short fetal limbs.
• Prenatal diagnosis using cell-free fetal DNA in maternal serum.
• Genetic counselling.

6. • Signs & Symptoms
At birth, a child with this condition will likely have:
• a short stature that’s significantly below average for age and sex
• short arms and legs, especially the upper arms and thighs, in comparison to
body height
• short fingers in which the ring and middle fingers may also point away from
each other
• a disproportionately large head compared to the body
• an abnormally large, prominent forehead
• an underdeveloped area of the face between the forehead and upper jaw

7. Health problems an infant may have include:
• decreased muscle tone, which can cause delays in walking and other motor
skills
• apnea, which involves brief periods of slowed breathing or breathing that
stops
• hydrocephalus, or “water on the brain”
• spinal stenosis, which is a narrowing of the spinal canal that can compress the
spinal cord

8. Children and adults with achondroplasia may:
• have difficulty bending their elbows
• obese
• experience recurrent ear infections due to narrow passages in the ears
• develop bowed legs
• develop an abnormal curvature of the spine called kyphosis or lordosis
• develop new or more severe spinal stenosis

9. • Clinical Features
Average-size trunk, short arms and legs with particularly
short upper arms and thighs, limited range of motion at the
elbows, and an enlarged head (macrocephaly) with a
prominent forehead. Fingers are typically short and the ring
finger and middle finger may diverge, giving the hand a
three-pronged (trident) appearance. People with
achondroplasia are generally of normal intelligence.

10. (macrocephaly)
The entire forehead is prominent due to protrusion
of the frontal bone. (trident)

11. • Treatment
• There is no specific or permanent treatment available for achondroplasia.
• From birth, the height, weight, and head circumference of affected children are closely monitored,
and measures to avoid obesity are taken.
• To further evaluate hypotonia or signs of spinal cord compression, a magnetic resonance imaging
(MRI) or computed tomography (CT) scan will be needed.
• To help with breathing, there are surgeries to remove the adenoids and tonsils. Also, continuous
positive airway pressure (CPAP) by nasal mask can be done.
• To correct obstructive sleep apnea, a surgical opening in the airway, or tracheostomy, can be
performed.
• With patients with problems such as hyperreflexia (overactive reflexes), clonus (a series of
involuntary muscle contractions and relaxations), or central hypopnea (reduction in respiratory effort
leading to a reduction in airflow), there is a surgery called suboccipital decompression, which
decreases pressure on the brain.