Meyer-Schwickerath syndrome; Oculodentoosseous
Mostly Autosomal dominant, or sporadic, less commonly Autosomal recessive
Inheritance from both parents will result in the disease/ Inheritance from one parent will result in the disease
Age range at onset:
All ages – including neonatal
Specialists you may see:
This condition most severely affects the eyes, teeth and fingers. Those with ODD typically have microphthalmia and abnormalities leading to vision loss, such as strabismus. They will experience small or missing teeth, weak enamel, early tooth loss and cavities. A thin nose and syndactyly between the fourth and fifth fingers are characteristic of this condition.
Other less common symptoms are sparse hair growth, brittle nails, microcephaly, a cleft palate, webbed toes and camptodactyly. Lack of bowel control, ataxia, spasticity, hearing loss and dysarthria may also occur.
Mutations in the GJA1 gene cause this condition. The GJA1 gene creates a protein (connexin 43) used to form gap junctions – channels of communication between cells. When the protein is abnormally formed, the communication channels are closed, disrupting cell-to-cell communication. This prevents growth and specialisation of cells, leading to the developmental symptoms described.