Biomaterial Database

Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome. 1988

A M Zamzam, and S M Sheriff, and C I Phillips

Department of Ophthalmology, Ibn Sina Hospital, Kuwait.

A 13-year-old boy presented with bilateral aniridia, ectopia lentis, two palatally placed upper incisors which may be supernumerary teeth or may be malpositioned lateral incisors, and mental retardation. The cause is very probably a single autosomal recessive gene defect although the mental state may have a separate, genetic cause. Since his parents, who are normal, are second cousins and his father's and his mother's parents are also full cousins, the coefficient of inbreeding is 1/64 which is only 25% of the coefficient for full cousinhood of parents alone (1/16). No biochemical correlate has been identified.

UI	MeSH Term	Description	Entries
D007180	Incisor	Any of the eight frontal teeth (four maxillary and four mandibular) having a sharp incisal edge for cutting food and a single root, which occurs in man both as a deciduous and a permanent tooth. (Jablonski, Dictionary of Dentistry, 1992, p820)	Incisors
D007498	Iris	The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.
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
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
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
D003241	Consanguinity	The magnitude of INBREEDING in humans.	Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D004479	Ectopia Lentis	Congenital displacement of the lens resulting from defective zonule formation.	Lentis, Ectopia
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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