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Congenital stapes fixation, symphalangism and syndactylia. 1975

P Vase, and S Prytz, and P S Pedersen

An autosomal dominant hereditary syndrome is described consisting of congenital deafness, characteristic finger and toe deformities, with absence of the proximal interphalangeal joint together with syndactylia. The syndrome has been observed in 5 members of a Danish family, and the study confirms the autosomal dominant trait.

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
D001844 Bone Conduction Transmission of sound waves through vibration of bones in the SKULL to the inner ear (COCHLEA). By using bone conduction stimulation and by bypassing any OUTER EAR or MIDDLE EAR abnormalities, hearing thresholds of the cochlea can be determined. Bone conduction hearing differs from normal hearing which is based on air conduction stimulation via the EAR CANAL and the TYMPANIC MEMBRANE. Bone Conduction Hearing,Conduction Hearing, Bone,Conduction, Bone,Hearing, Bone Conduction
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D003638 Deafness A general term for the complete loss of the ability to hear from both ears. Deafness Permanent,Hearing Loss Permanent,Prelingual Deafness,Deaf Mutism,Deaf-Mutism,Deafness, Acquired,Hearing Loss, Complete,Hearing Loss, Extreme,Acquired Deafness,Complete Hearing Loss,Deafness, Prelingual,Extreme Hearing Loss,Permanent, Deafness,Permanent, Hearing Loss,Permanents, Deafness
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
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant

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