Achondroplasiaan

Achondroplasiaan is not a widely recognized medical term in standard literature; it appears to refer to achondroplasia, the best-known form of disproportionate short stature. Achondroplasia is a skeletal dysplasia characterized by rhizomelic limb shortening and macrocephaly with frontal bossing, while the trunk remains relatively normal in size.

It results from an activating mutation in the FGFR3 gene, typically the FGFR3 G380R variant. The condition is inherited in an autosomal dominant pattern, but most cases arise from de novo mutations. Homozygous achondroplasia is usually lethal in infancy, whereas heterozygous individuals have the classic phenotype.

Clinically, affected individuals have short limbs with relatively short bones in the arms and legs, a prominent forehead, midface hypoplasia, lumbar lordosis, and sometimes genu varum in childhood. The hands may show a trident configuration, and motor milestones can be delayed. Intelligence is typically normal. Adult height commonly averages about 4 feet (around 120 cm).

Diagnosis is based on clinical features and radiographs showing rhizomelic shortening, metaphyseal flaring, and characteristic skull features; genetic testing for FGFR3 mutations can confirm the diagnosis. Prenatal ultrasound can raise suspicion in a known risk setting.

Management requires a multidisciplinary approach. Care focuses on respiratory problems in infancy, sleep apnea, ear infections, and monitoring for potential hydrocephalus. Orthopedic care addresses limb deformities and spinal issues such as stenosis. Physical therapy supports mobility, and there is no cure; life expectancy is near normal with appropriate care.

Epidemiology estimates place the incidence at about 1 in 15,000 to 40,000 live births, with prevalence around 1 in 25,000. The term achondroplasiaan is not standard; this article describes achondroplasia, which the term may reference.