Mandibulo-facial dystosis. Collins-Franceschetti-Zwahlen syndrome. 1976

S el-Antably, and M el-Hoshy

UI MeSH Term Description Entries
D007906 Lens Subluxation Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS. Lens Dislocation,Lens Dislocation and Subluxation,Dislocation, Lens,Dislocations, Lens,Lens Dislocations,Lens Subluxations,Subluxation, Lens,Subluxations, Lens
D008297 Male Males
D008342 Mandibulofacial Dysostosis 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) MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D009901 Optic Nerve Diseases Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. Cranial Nerve II Diseases,Foster-Kennedy Syndrome,Optic Disc Disorders,Optic Disk Disorders,Optic Neuropathy,Second Cranial Nerve Diseases,Cranial Nerve II Disorder,Neural-Optical Lesion,Disc Disorder, Optic,Disk Disorder, Optic,Disorder, Optic Disc,Foster Kennedy Syndrome,Lesion, Neural-Optical,Neural Optical Lesion,Neural-Optical Lesions,Neuropathy, Optic,Optic Disc Disorder,Optic Disk Disorder,Optic Nerve Disease,Optic Neuropathies,Syndrome, Foster-Kennedy
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D003315 Cornea The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) Corneas
D003320 Corneal Ulcer Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection. Keratitis, Ulcerative,Keratitides, Ulcerative,Ulcer, Corneal,Ulcerative Keratitides,Ulcerative Keratitis
D003817 Dentition The teeth collectively in the dental arch. Dentition ordinarily refers to the natural teeth in position in their alveoli. Dentition referring to the deciduous teeth is DENTITION, PRIMARY; to the permanent teeth, DENTITION, PERMANENT. (From Jablonski, Dictionary of Dentistry, 1992) Dentitions
D005124 Eye Abnormalities Congenital absence of or defects in structures of the eye; may also be hereditary. Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D005128 Eye Diseases Diseases affecting the eye. Eye Disorders,Eye Disease,Eye Disorder

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