Achondroplasia

Resident: Swan
Syndrome: Achondroplasia

Etiology: Sporadic mutation in 85% of cases (2 parents without achondroplasia may give birth to child with it), or autosomal dominant pattern of inheritance. It is an abnormality of cartilage formation brought on by a change in the DNA for fibroblast growth factor receptor 3. It’s the most common type of dwarfism. If a homozygous child receives copies of gene from both parents, very unlikely the child will survive more than a few months.

Diagnosis: Prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. After birth, the infant shows increased front to back head size, along with possible signs of hydrocephalus. X-rays of the long bones can reveal the condition in the newborn.

Signs/Symptoms: Characteristic space between the long and ring fingers (“trident hands”), bowed legs, decreased muscle tone, relatively large head size, prominent forehead, short upper arm and thigh, short stature, spinal stenosis

Oral Manifestations:

Craniofacial: Macrocephaly, prominent forehead (bossing), depressed nasal bridge, maxillary hypoplasia, lip incompetence, foramen magnum stenosis. These may lead to hydrocephalus, apnea, upper-airway obstruction, otitis media, sinusitis, and dental malocclusion.

Dental: Anterior open bite, Class III malocclusions (due to maxillary hypoplasia), possible delayed dental development

Dental needs/considerations: Early Ortho evaluation/intervception for Cl. III malocclusion, place a cushion behind child’s back to reduce back pain (spinal stenosis).