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Frontofacionasal dysplasia

Orpha number ORPHA1791
Synonym(s) Gollop syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q75.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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. The etiology remains unknown. The syndrome is inherited in an autosomal recessive manner.


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