Related MeSH Hierarchy (4)
Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Dysostoses » Craniofacial Dysostosis » Mandibulofacial Dysostosis
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » Craniofacial Dysostosis » Mandibulofacial Dysostosis
Diseases [C] » Eye Diseases [C11] » Eye Diseases, Hereditary » Coloboma » Mandibulofacial Dysostosis
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Musculoskeletal Abnormalities » Craniofacial Abnormalities » Craniofacial Dysostosis » Mandibulofacial Dysostosis
Description
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) MeSH
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Subtype Terms (1)
Goldenhar Syndrome
3 experimental drugs
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UMLS Data
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