Pfeiffer syndrome

Pfeiffer syndrome
A form of craniosynostosis that results in multiple physical defects, including broad thumbs and great toes; depressed nasal bridge and generally flat profile; low-set, slanted ears;, strabismus; and a prominent mandible. There may also be internal defects of the gallbladder, heart, inner ear, and other areas; and CNS abnormalities if there is a cloverleaf skull. Diagnosis is by comparison to similar syndromes, such as Alpert syndrome, and by chromosome analysis. Treatment is by surgery. See also acrocephalosyndactyly, fibroblast growth factor receptor 2.

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an autosomal dominant disorder characterized by acrocephalosyndactyly associated with broad short thumbs and great toes. Called also acrocephalopolysyndactyly, type I, acrocephalosyndactyly, type V, and Noack s.

Medical dictionary. 2011.

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  • Pfeiffer syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32145 ICD10 = ICD9 = ICDO = OMIM = 101600 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D000168 Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of… …   Wikipedia

  • Syndrome de rubinstein-taybi — Autre nom Syndrome des gros pouces et des gros orteils Référence MIM …   Wikipédia en Français

  • Syndrome de Rubinstein-Taybi — Référence MIM 180849 Transmission Dominante Chromosome 16p13.3 22q13 Gène CREBBP EP300 Empreinte parentale …   Wikipédia en Français

  • Pfeiffer-Syndrom — Klassifikation nach ICD 10 Q87.0 Angeborene Fehlbildungssyndrome mit vorwiegender Beteiligung des Gesichtes …   Deutsch Wikipedia

  • Syndrome, Apert (acrocephalosyndactyly) — An inherited disorder with abnormalities of the skull and face and the hands and feet. There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front …   Medical dictionary

  • Syndrome de pfeiffer — Le syndrome de Pfeiffer est une craniosynostose en rapport avec une mutation du gène FGPR. Cette mutation du gène FGPR est responsable d autres craniosynostose regroupées sous le nom de craniosynostose FGPR dépendante. Les sutures du crâne qui… …   Wikipédia en Français

  • Syndrome de Pfeiffer — Le syndrome de Pfeiffer est une craniosynostose en rapport avec une mutation du gène FGPR. Cette mutation du gène FGPR est responsable d autres craniosynostose regroupées sous le nom de craniosynostose FGPR dépendante. Les sutures du crâne qui… …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Pfeiffer — Richard F.J., German physician, 1858–1945. See Pfeifferella, P. phenomenon, P. syndrome …   Medical dictionary

  • Donohue syndrome — Classification and external resources insulin receptor OMIM 246200 …   Wikipedia

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