Catania-type acrofacial dysostosis (AFDC) is a very rare genetic disease characterized by mild intrauterine growth retardation (smaller than average size due to delayed growth in the womb), short stature, microcephaly (small head), having a widow’s peak, tooth decay, changes in the development of the head and face (mandibulofacial dysostosis), limb length defects, and short and webbed fingers and toes. Other symptoms may include a type of hand crease ( called the “simian” crease), having hernias, and undescended testes or an abnormally formed penis in males.
Although AFDC is thought to be a genetic disease, we do not currently know what genes and genetic mutations specifically cause the condition. A genetic disease is caused by a mutated gene; furthermore, a gene is made up of DNA passed from parent to child that helps creates proteins responsible for normal bodily/cellular processes. Though not known, it is theorized that AFDC is passed down through autosomal dominant inheritance, which is when only one parent needs the genetic mutation for offspring to have a chance of getting the disease.
Diagnosis of AFDC usually occurs through a thorough physical examination and a family health history evaluation. There is currently no treatment for AFDC; however, symptoms may be treated/managed individually. Surgery may be an option for male genital abnormalities and webbed fingers/toes. Regular dental treatments may help improve teeth health.
If you or a family member have been diagnosed with AFDC, speak with your doctor about the most current treatment options. Support groups may also be available for further resources and information.
Description Last Updated: Aug 24, 2018