Name of disease:
ICD-10 diagnosis code:
Most cases of Achondroplasia are sporadic, which means they occur in people with no history of the disorder in their family. It is caused by the mutation of FGFR3 gene. For sporadic achondroplasia, increased age of father may be a contributing factor.
Mode of inheritance:
Achondroplasia can be sporadic or are inherited from parents in autosomal dominant pattern.
1/26,000 – 40,000
The diagnosis of Achondroplasia is based on clinical findings X-ray findings can confirm the diagnosis of patients. If the diagnosis is uncertain after clinical evaluation and radiological findings, molecular genetic testing can be used to conform if there is the mutated FGFR3 gene.
Age of onset:
Begins in the developing fetus
Common signs and symptoms:
Short stature. Unusually large head with a prominent and flat nasal bridge Short arms and legs. Prominent abdomen and buttocks. Short fingers and toes with trident hands Lordosis or kyphosis Redundant skinfolds in upper extremities. Developmental delay Sleep apnea.
Available treatments (medicinal and non-medicinal):
The treatment of achondroplasia mainly addresses the signs and symptoms of patients. For example, physical therapy is recommended for achondroplasia children with developmental delay.
Disease management tips:
The management of patients with achondroplasia requires an experienced, multidisciplinary approach to tackle the signs and symptoms of achondroplasia. Shortening of limbs can affect the daily self-care tasks of patients such as feeding, bathing and dressing etc. Therefore, it is important to provide adaptive arrangements such as using lower chairs and desks or using stools to reach the toilet seat and sink. The height and head circumference should be plotted regular on disease-specific growth curves to avoid unnecessary imaging. However, growth hormone therapy is not suggested because it may worsen the disproportion in patients. Patients are not advised to use vertical swing because patients have larger heads and the swings can force the head in hyperflexion position, which leads to cord compression. For pregnant women with achondroplasia, cesarean section is required for delivery because of the small pelvic size.
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