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Optic nerve hypoplasia

Codes

IDC-10: Q04.4

ORPHA: 3157

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
7:100,000 children aged 0-19
Cause
Unknown, but there are likely several factors. The cause could be an underlying genetic sensitivity in the foetus in combination with early vascular damage during foetal development, which affects the brain’s midline structure and the area of the pituitary gland, hypothalamus, and the optic chiasm.
General symptoms
Optic nerve hypoplasia can occur as a single diagnosis or in combination with other types of hormonal and/or neurological disruptions or behavioural disorders. Effect on vision varies from mild to severe on one eye or both. Symptoms normally occur during the first year of life. There is nothing in the information we have today to say that vision will get worse with time, but rather that the damage is static. Hormonal deficiencies are common in children with this diagnosis, and most need hormone supplements. It is important to get an early diagnosis to avoid the hormonal deficiencies causing too much damage. Variation between the different functional impairments is great. Development of fine and gross motor skills is often affected. Other symptoms that may occur are epilepsy, paralysis of one side of the body, developmental disability, behavioural disorder and autism.
Synonyms
Septo-optic dysplasia, ONH syndrome

Orofacial/odontological symptoms

In cases with a neurological functional impairment, oral motor skills and speech development can be affected.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential in cases of difficulty with dental treatment and tooth brushing.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
  • Speech and language difficulties should be treated by a speech therapist.

Sources

Rare diseases
Updated: 0001-01-01 00:00