(Q75.5) Oculomandibular dysostosis

Oculomandibular dysostosis is a rare genetic disorder characterized by craniofacial malformations, including underdeveloped lower jaw, malformed ears, and eye abnormalities. it is caused by a mutation in the alx4 gene, which is responsible for the development of the face and skull.

Oculomandibular dysostosis is a rare genetic disorder caused by mutations in the gene encoding the protein frem2. these mutations lead to abnormal development of the facial bones and palatal shelf, resulting in malformations of the eyes, mouth, and jaw. additionally, the disorder can affect the development of the auditory canals and middle ear structures, leading to hearing loss. other symptoms of the disorder include a flattened nose, cleft palate, and malformed ears.

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Main Goal: To improve the quality of life of the person affected by oculomandibular dysostosis

• Provide physical therapy to help improve mobility and decrease pain
• Prescribe medications to reduce inflammation and pain
• Provide orthopedic and ophthalmologic evaluations
• Refer to a speech therapist to help improve communication and swallowing
• Refer to a nutritionist to ensure proper nutrition
• Provide counseling and support to help with emotional and psychological issues
• Refer to a geneticist for genetic testing and counseling
• Refer to a physical therapist to help improve strength and balance
• Refer to an audiologist for hearing tests and hearing aids
• Provide occupational therapy to help improve daily living skills

Oculomandibular dysostosis can be prevented by avoiding exposure to environmental toxins, maintaining a healthy diet, and avoiding excessive alcohol consumption.