A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).
A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.
D000328:Adult; D002386:Cataract / Q000150:complications; D002648:Child; D002972:Cleft Palate / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005901:Glaucoma / Q000150:complications; D006801:Humans; D008297:Male; D008437:Maxilla / Q000002:abnormalities*; D009216:Myopia / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D013577:Syndrome; D014822:Vitreous Body