ACHONDROPLASIA
TOPIC: ACHONDROPLASIA
Etiology
- Description:
Characteristics of ACHONDROPLASIA :
- small stature (may not be present in infants due to them already being small),
- short limbs and rhizomatic disproportion (present in arms, variable in severity
- macrocephaly (large head at birth and remains that way for entire life),
- midfacial retrusion, (underdevelopment of cartilaginous bones of face, results in flattening of entire midface)
- small chest, (overly compliant ribs, resulting in paradoxical movement with inspiration)
- thoracolumbar kyphosis, (not present at birth, nearly all infants develop this)
- lumbar hypertoroids, (exaggerated lordosis, “swayback”, starts when walking begins)
- limited elbow extension, (stiff elbows, gets worse with age)
- short fingers and trident configuration of the hands
- hypermobile hips and knees
- bowing of the mesial segment of the legs (arises during early childhood)
- hypotonia (most infants with this are hypotonic, described as “floppy”
Anatomy involved: long bones of arms and legs (bone tissue does not develop properly)
Effects on the normal structure and function: results in shortened bones, short stature, results in swayback, bowed legs
- Incident Rate/Statistics (What are the national statistics, Does the pathology affect a particular demographic group?)
- Most common form of disproportionate short stature, occurs in every 15,000 to one in 40,000 live births
- Affects males and females equally
- Affects all demographic groups equally
- Method of ACHONDROPLASIA diagnosis:
- Requires radiographic assessment (of entire body, hemi-survey, or pelvis and femora)
- Molecular testing (as needed, very rare this happens, this testing occurs if uncertainty remains after clinical and radiologic assessment)
- Genetic testing (for individuals who may be too young to make a diagnosis, or people with atypical symptoms)
- Treatment/Medication (What is the success rate of drugs?)
- No treatment that will make it go away but these things can help the problem
- children born with it need to have weight, height, and head circumference monitored
- support for social adjustment
- problems with lower limbs (clonus, hyperreflexia, central hypopnea)
- surgery (called suboccipital decompression) performed to decrease pressure on brain
- Prognosis of ACHONDROPLASIA
-What happens if patient receives treatment?
-What happens if patient goes untreated?
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