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Pfeiffer syndrome type 3

MedGen UID:
1748161
•Concept ID:
C5438850
•
Disease or Syndrome
Synonym: Pfeiffer syndrome, type III
SNOMED CT: Pfeiffer syndrome type 3 (1003918009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019661
Orphanet: ORPHA93260

Definition

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPfeiffer syndrome type 3

Professional guidelines

PubMed

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C
J Dtsch Dermatol Ges 2022 Mar;20(3):273-277. Epub 2022 Mar 4 doi: 10.1111/ddg.14707. PMID: 35246941
Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
Biamino E, Canale A, Lacilla M, Marinosci A, Dagna F, Genitori L, Peretta P, Silengo M, Albera R, Ferrero GB
Int J Pediatr Otorhinolaryngol 2016 Jun;85:95-8. Epub 2016 Apr 11 doi: 10.1016/j.ijporl.2016.03.038. PMID: 27240504
Apert syndrome: evaluation of a treatment algorithm.
Fearon JA, Podner C
Plast Reconstr Surg 2013 Jan;131(1):132-142. doi: 10.1097/PRS.0b013e3182729f42. PMID: 23271523

Recent clinical studies

Etiology

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Danso KA, Akuaku RS, Young FNA, Wiafe SA
Pan Afr Med J 2021;40:136. Epub 2021 Nov 4 doi: 10.11604/pamj.2021.40.136.31395. PMID: 34909104Free PMC Article

Diagnosis

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Danso KA, Akuaku RS, Young FNA, Wiafe SA
Pan Afr Med J 2021;40:136. Epub 2021 Nov 4 doi: 10.11604/pamj.2021.40.136.31395. PMID: 34909104Free PMC Article
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
Peña-Padilla C, Viramontes-Aguilar L, Tavares-Macías G, Bobadilla-Morales L, L Cunningham M, Park S, Zapata-Aldana E, Corona-Rivera JR
Fetal Pediatr Pathol 2019 Oct;38(5):412-417. Epub 2019 Apr 19 doi: 10.1080/15513815.2019.1603256. PMID: 31002276
Pfeiffer syndrome type 3, a rare and unusual craniosynostosis: case reports from Korle Bu Teaching Hospital, Accra, Ghana.
Badoe EV
West Afr J Med 2013 Jul-Sep;32(3):228-30. PMID: 24122692

Prognosis

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
Peña-Padilla C, Viramontes-Aguilar L, Tavares-Macías G, Bobadilla-Morales L, L Cunningham M, Park S, Zapata-Aldana E, Corona-Rivera JR
Fetal Pediatr Pathol 2019 Oct;38(5):412-417. Epub 2019 Apr 19 doi: 10.1080/15513815.2019.1603256. PMID: 31002276
Pfeiffer syndrome type 3, a rare and unusual craniosynostosis: case reports from Korle Bu Teaching Hospital, Accra, Ghana.
Badoe EV
West Afr J Med 2013 Jul-Sep;32(3):228-30. PMID: 24122692

Clinical prediction guides

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Danso KA, Akuaku RS, Young FNA, Wiafe SA
Pan Afr Med J 2021;40:136. Epub 2021 Nov 4 doi: 10.11604/pamj.2021.40.136.31395. PMID: 34909104Free PMC Article

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