Frontofacionasal dysplasia

MONDO:0009247

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).

Also known as: Gollop syndrome, frontofacionasal dysplasia, Ffnd, Frontofacionasal dysostosis, fronto-facio-nasal dyplasia, fronto-facio-nasal dysostosis

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Syndromic disease (25) Human disease (15) Developmental defect during embryogenesis (8) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2)

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