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ACROCEPHALOSYNDACTYLIE [2 records]
Record 1 - internal organization data 2019-12-05
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
- Bones and Joints
Record 1, Main entry term, English
- Pfeiffer syndrome
1, record 1, English, Pfeiffer%20syndrome
correct
Record 1, Abbreviations, English
- PS 2, record 1, English, PS
correct
Record 1, Synonyms, English
- acrocephalosyndactyly type V 3, record 1, English, acrocephalosyndactyly%20type%20V
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). ... In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). 4, record 1, English, - Pfeiffer%20syndrome
Record 1, Key term(s)
- acrocephalosyndactyly type 5
- acrocephalosyndactyly V
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
- Os et articulations
Record 1, Main entry term, French
- syndrome de Pfeiffer
1, record 1, French, syndrome%20de%20Pfeiffer
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- acrocéphalosyndactylie de type V 2, record 1, French, acroc%C3%A9phalosyndactylie%20de%20type%20V
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Décrit par Pfeiffer en 1964, le syndrome de Pfeiffer est un syndrome héréditaire rare à transmission autosomique dominante associant une craniosténose, des pouces et des orteils élargis et déviés et une syndactylie partielle des mains et des pieds. [...] Il est causé par une mutation [...] des gènes FGFR-1 ou FGFR-2. 3, record 1, French, - syndrome%20de%20Pfeiffer
Record 1, Key term(s)
- acrocéphalosyndactylie de type 5
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2012-03-01
Record 2, English
Record 2, Subject field(s)
- Bones and Joints
Record 2, Main entry term, English
- acrocephalosyndactylia
1, record 2, English, acrocephalosyndactylia
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- acrocephalosyndactylism 1, record 2, English, acrocephalosyndactylism
correct
- acrocephalosyndactyly 2, record 2, English, acrocephalosyndactyly
correct
- ACPS 2, record 2, English, ACPS
correct
- ACPS 2, record 2, English, ACPS
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A malformation syndrome recognizable at birth and characterized by premature craniosynostosis, syndactyly, and polydactyly. 1, record 2, English, - acrocephalosyndactylia
Record 2, Key term(s)
- acrocephaly-syndactyly
- acrosphenosyndactylia
Record 2, French
Record 2, Domaine(s)
- Os et articulations
Record 2, Main entry term, French
- acrocéphalo-syndactylie
1, record 2, French, acroc%C3%A9phalo%2Dsyndactylie
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
Il existe divers syndromes dans les acrocéphalo-syndactylies, le plus connu étant après le syndrome d'Apert, le syndrome de Pfeiffer. 1, record 2, French, - acroc%C3%A9phalo%2Dsyndactylie
Record 2, Key term(s)
- acrocéphalosyndactylie
Record 2, Spanish
Record 2, Textual support, Spanish
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