A grouping of rare congenital disorders, oromandibular limb hypoplasia affects the formation of bones in the tongue and jaw. In some cases, it can also impact bone development within the feet and hands. Doctors typically recommend a combination of surgical procedures to counteract the effects of poor bone development.
Oromandibular limb hypoplasia actually includes five distinct conditions:
Doctors and researchers are not entirely sure what causes these conditions. Genetics may be a factor, but many children who experience oromandibular limb hypoplasia do not have a family history. Some theorize that taking certain medications during pregnancy, such as diazepam and meclizine hydrochloride, can lead to the bone malformations associated with oromandibular limb hypoplasia.
Children with oromandibular limb hypoplasia often have a receding chin due to poor bone development. They can also exhibit other symptoms, such as:
Doctors use a combination of exams and tests when diagnosing oromandibular limb hypoplasia. Genetic testing can also help identify underlying conditions.
Surgical procedures are used to correct bone malformations associated with oromandibular limb hypoplasia. The type of surgery recommended will depend on the symptoms, but procedures can address malformations in the jaw, soft palate, feet, and hands.
Some children also require speech therapy to improve communication, while feeding therapy is necessary to ensure the child has sufficient intake of nutrients. Families are also encouraged to seek out support to cope with the challenges of these conditions. Early diagnosis and treatment usually result in a positive long-term prognosis for most children.