Biomaterial Database

Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. 1988

G Oğur, and M Yüksel

Institute of Child Health, University of Istanbul, Capa/Istanbul, Turkey.

Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.

UI	MeSH Term	Description	Entries
D007668	Kidney	Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.	Kidneys
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
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002971	Cleft Lip	Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.	Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D002972	Cleft Palate	Congenital fissure of the soft and/or hard palate, due to faulty fusion.	Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D004476	Ectodermal Dysplasia	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.	Anhidrotic Ectodermal Dysplasia,Aplasia Cutis Congenita,Clouston's Syndrome,Ectodermal Defect, Congenital,Hidrotic Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasia,Aplasia Cutis Congenita, Nonsyndromic,Autosomal Dominant Hidrotic Ectodermal Dysplasia,Clouston Hidrotic Ectodermal Dysplasia,Clouston Syndrome,Clouston's Hidrotic Ectodermal Dysplasia,Congenital Ectodermal Defect,Defect, Congenital Ectodermal,Ectodermal Dysplasia 2, Hidrotic,Ectodermal Dysplasia Anhidrotic,Ectodermal Dysplasia, Anhydrotic,Ectodermal Dysplasia, Hidrotic,Ectodermal Dysplasia, Hidrotic, Autosomal Dominant,Hidrotic Ectodermal Dysplasia, Autosomal Dominant,Hydrotic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasias,Anhidrotic, Ectodermal Dysplasia,Anhidrotics, Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasias,Cloustons Syndrome,Congenital Ectodermal Defects,Defects, Congenital Ectodermal,Dysplasia Anhidrotic, Ectodermal,Dysplasia Anhidrotics, Ectodermal,Dysplasia, Anhidrotic Ectodermal,Dysplasia, Anhydrotic Ectodermal,Dysplasia, Ectodermal,Dysplasia, Hidrotic Ectodermal,Dysplasia, Hydrotic Ectodermal,Dysplasias, Anhidrotic Ectodermal,Dysplasias, Anhydrotic Ectodermal,Dysplasias, Ectodermal,Dysplasias, Hidrotic Ectodermal,Dysplasias, Hydrotic Ectodermal,Ectodermal Defects, Congenital,Ectodermal Dysplasia, Anhidrotic,Ectodermal Dysplasia, Hydrotic,Ectodermal Dysplasias,Ectodermal Dysplasias, Anhidrotic,Ectodermal Dysplasias, Anhydrotic,Ectodermal Dysplasias, Hydrotic,Hidrotic Ectodermal Dysplasias,Hydrotic Ectodermal Dysplasias,Syndrome, Clouston,Syndrome, Clouston's
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