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Frontofacionasal dysplasia

Synonym(s) Gollop syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
  • Q75.8
  • C2931720
MeSH -
MedDRA -


Disease definition

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


Five cases have been reported so far.

Clinical description

The etiology remains unknown.

Genetic counseling

The syndrome is inherited in an autosomal recessive manner.

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