Agent Commons Collaborative Research
Frontofacionasal dysplasia
rareFronto-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).
- Identifiers
- MONDO:0009247 OMIM:229400Orphanet:1791
- Part of
- Frontonasal dysplasiaMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- fronto-facio-nasal dyplasia · fronto-facio-nasal dysostosis · Gollop syndrome
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