Pfeiffer syndrome


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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.

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.
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

Pfeif·fer syn·drome

(fī'fĕr sin'drōm)
Variable syndactyly of the fingers and toes; craniosynostosis is a variable feature.
Synonym(s): Noack syndrome.

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
References in periodicals archive ?
a) Clinical diagnosis Cases, n Gene Mutations (cases, n) Apert syndrome 9 FGFR2 S252W (7) S253R (2) Crouzon syndrome 11 FGFR2 C342Y (2) S347C (2) C342S (1) C278F (1) S354C (1) D336G (1) Pfeiffer syndrome 6 FGFR2 C342S (2) A344P (1) C342R (1) F276V (1) Saethre-Chotzen syndrome 8 TWIST1 R116L (1) K145E (1) FGFR3 P250R (2) Plagiocephaly 36 TWIST1 R154T (1) FGFR3 P250R (9) Brachicephaly 22 TWIST1 N114T (1) R118L (1) R118H (1) FGFR3 P250R (4) Complex cases 5 FGFR2 C278F (1) Mixed cases 43 TWIST1 K145N (1) 221delC (1) FGFR3 P250R (1) Syndromic cases 19 (a) Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes are classic acrocephalosyndactyly syndromes.
The final episode sees her moving into her own place, but in the meantime, we also meet Kayleigh, 22, a sufferer of Pfeiffer syndrome whose bones have fused as they've grown.
Izzy was born with Pfeiffer Syndrome, a genetic condition affecting one in 100,000 children who suffer from premature fusing of the skull bones.
He was born with the rare genetic disorder Pfeiffer Syndrome, where the bones in his skull fused together and left his brain with no space to grow naturally.
The little fighter has the genetic condition Pfeiffer Syndrome which hits seven or eight babies in the UK each year, although Ollie's is one of the most serious cases ever seen by surgeons here.
PFEIFFER Syndrome causes the bones in the face and skull to fuse together.
The child died from a rare bone condition called Pfeiffer Syndrome, though the parents have never publicly spoken of the death.