Biomaterial Database

[Syndrome of symphalangism and stapes fixation: an autosomal dominant hereditary disease (author's transl)]. 1978

P Meinecke, and E Passarge

The autosomal dominant hereditary syndrome of symphalangism and stapes fixation consists of multiple synostoses, most frequently symphalangism, in addition to synostoses of carpal and tarsal bones and radio-ulnar synostoses, various other malformations of the limbs (restricted joint movement or syndactylism) and variable degrees of conduction disorders due to stapes fixation, starting in childhood. A family tree of four successive generations with various forms of the syndrome is described.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010040	Otosclerosis	Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.	Otospongiosis,Otoscleroses,Otospongioses
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
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
D004429	Ear Ossicles	A mobile chain of three small bones (INCUS; MALLEUS; STAPES) in the TYMPANIC CAVITY between the TYMPANIC MEMBRANE and the oval window on the wall of INNER EAR. Sound waves are converted to vibration by the tympanic membrane then transmitted via these ear ossicles to the inner ear.	Auditory Ossicles,Auditory Ossicle,Ear Ossicle,Ossicle, Auditory,Ossicle, Ear,Ossicles, Auditory,Ossicles, Ear
D005260	Female		Females
D005385	Fingers	Four or five slender jointed digits in humans and primates, attached to each HAND.	Finger
D006311	Hearing Disorders	Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.	Distorted Hearing,Dysacusis,Paracousis,Paracusis,Hearing Disorder,Hearing, Distorted
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man