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Frontonasal dysplasia

Orpha number ORPHA250
Synonym(s) Median cleft syndrome
Prevalence Unknown
Inheritance Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q75.8
ICD-O -
OMIM -
UMLS
  • C0432106
  • C1876203
MeSH
  • C538065
MedDRA -
SNOMED CT
  • 254004006

Summary

Frontonasal dysplasia or median cleft syndrome describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The prevalence is unknown but the condition is rare. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. Frontonasal dysplasia may be syndromic, occurring in association with other malformations, such as tetralogy of Fallot, absence of the tibia, ear anomalies, macrostomia, and cerebral anomalies. Intellectual deficit is more likely in cases where hypertelorism is severe or where there is extra-cranial involvement. The aetiology is still unknown, but seems to be linked to defective embryologic development of the nasal capsule. The disorder is thought to be sporadic in most cases. Few familial cases have been described, for which genetic counselling can be proposed. Hypertelorism, cleft lip and encephalocele can be detected by antenatal ultrasound. Neonatal management should detect potential oral or respiratory difficulties. Multistage craniofacial surgery is justified, and is generally performed from the age of 6-8 years. It can give satisfying cosmetic and functional results.


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