Subject(s)
Disease/etiology , Syndrome/etiology , DiGeorge Syndrome/etiology , Humans , Models, Biological , Models, GeneticABSTRACT
In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt-Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray-choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counselling.
Subject(s)
Abnormalities, Multiple/genetics , Radius/abnormalities , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/pathology , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Female , Genetic Counseling , Hand Deformities, Congenital , Humans , Leg/abnormalities , Male , Spine/abnormalities , Syndrome/etiologyABSTRACT
A brief review is given of the historical and modern use of the terms "disease," "syndrome," and "symptom complex." In the old use, notably the Greek school of empirics, phenotype and disease were thought to be almost synonymous; then Thomas Sydenham added etiology and pathogenesis as defining criteria. Today the terms "disease," "syndrome," and "symptom complex" are used to signal varying degrees of medical knowledge and thus direct medical activity. In accordance with modern trends, a "disease" is understood as an etiologically und pathogenetically defined entity, a "syndrome" as an etiologically defined entity of unknown pathogenesis, and a "sequence" as an etiologically heterogeneous but pathogenetically defined disorder. None of these terms should be used for "symptom complexes," i.e., for causally undefined or heterogeneous phenotypes.
Subject(s)
Disease/etiology , Syndrome/etiology , Terminology as Topic , Child , Humans , PhenotypeABSTRACT
A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).
Subject(s)
Alopecia/congenital , Intellectual Disability/complications , Seizures/complications , Alopecia/complications , Alopecia/genetics , Alopecia/pathology , Child , Child, Preschool , Consanguinity , Female , Genes, Recessive , Humans , Intellectual Disability/genetics , Male , Microscopy, Electron , Seizures/genetics , Syndrome/etiology , Syndrome/geneticsABSTRACT
Syndromology is a misunderstood specialty that has much to contribute to the understanding of cranio-facial biology in general and the study of craniofacial anomalies in particular. An introduction to the practice of syndromology and the rudiments of syndrome delineation is presented. The aetiology and pathogenesis of selected craniofacial anomalies (Robin complex, hemifacial microsomia, and craniosynostosis) are considered from the perspective of syndromology.