Pfeiffer syndrome

(redirected from acrocephalosyndactyly type V)

Pfeiffer syndrome

 [fi´fer]
a hereditary autosomal dominant disorder characterized by conical deformity of the head, extra fingers and toes, webbed fingers and toes, and broad short thumbs and big toes. Called also acrocephalosyndactyly type V and acrocephalopolysyndactyly type I.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

Pfeif·fer syn·drome

(fī'fĕr), [MIM*101600]
disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8p or FGFR2 gene on 10q.
Farlex Partner Medical Dictionary © Farlex 2012
A condition characterised by a deformity of the cranial vault in which a frontal film demonstrates a tri-lobed appearance caused by premature closure of the sutures, which is accompanied by hydrocephaly
Aetiology Thanatophoric dwarfism [MIM 148800], accompanied by a prominent forehead, depressed nasal bridge, shortened limbs, bowing of femora, epiphyseal cupping, flattened vertebral bodies, achondroplasia-like pelvis, often, but not invariably, associated with mental retardation
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Pfeif·fer syn·drome

(fī'fĕr sin'drōm)
Variable syndactyly of the fingers and toes; craniosynostosis is a variable feature.
Synonym(s): Noack syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Pfeiffer,

Richard F.J., German physician, 1858-1945.
Pfeifferella - an obsolete genus of bacteria.
Pfeiffer bacillus - a species found in the respiratory tract that causes acute respiratory infection, acute conjunctivitis, bacterial meningitis, and purulent meningitis. Synonym(s): Haemophilus influenzae
Pfeiffer blood agar - solid agar, with a few drops of human blood smeared on the surface.
Pfeiffer phenomenon - bacteriolysis.
Pfeiffer syndrome - Synonym(s): type V acrocephalosyndactyly
Medical Eponyms © Farlex 2012