Oculomaxillofacial dysostosis
Synonyms: Richieri-Costa-Gorlin syndrome
Oculomaxillofacial dysostosis is a rare genetic bone developmental disorder characterized by short stature orbital region and ocular abnormalities (e.g. asymmetric orbits anophthalmia down-slanted and S-shaped palpebral fissures sparse eyebrows/eyelashes abnormal eyelids ectropion symblepharon corneal leukoma) abnormal nose (e.g. broad and abnormally modeled nasal root bridge and tip lateral deviation) malar hypoplasia cleft lip/palate and oblique facial clefts. Intellectual disability microcephaly micrognathia and limb anomalies (e.g. hemimelia abnormal scapular girdle brachydactyly syndactyly broad halluces) have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Oculomaxillofacial dysostosis?
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