Biomaterial Database

[Waardenburg's syndrome. Report of a family (author's transl)]. 1975

R Gracia, and M Burgueros, and G Lledó, and R Barrio, and F Alvarado

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D014849	Waardenburg Syndrome	Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.	Klein-Waardenburg Syndrome,Waardenburg's Syndrome,Klein Syndrome,Klein's Syndrome,Waardenburg Syndrome Type 1,Waardenburg Syndrome Type 3,Waardenburg Syndrome with Dystopia Canthorum,Waardenburg Syndrome with Upper Limb Anomalies,Waardenburg Syndrome, Type 1,Waardenburg Syndrome, Type 3,Waardenburg Syndrome, Type III,Waardenburg's Syndrome Type 1,Waardenburg-Klein Syndrome,White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations,Klein Waardenburg Syndrome,Kleins Syndrome,Syndrome, Klein,Syndrome, Klein's,Syndrome, Klein-Waardenburg,Syndrome, Waardenburg,Syndrome, Waardenburg's,Syndrome, Waardenburg-Klein,Waardenburg Klein Syndrome,Waardenburgs Syndrome