Pfeiffer syndrome type 1

MedGen UID:: 1726699
•Concept ID:: C5438812
•: Disease or Syndrome

Synonyms:	Classic Pfeiffer syndrome; classic Pfeiffer syndrome
SNOMED CT:	Pfeiffer syndrome type 1 (1003877009)
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:0019659
Orphanet:	ORPHA93258

Definition

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Pfeiffer syndrome type 1

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Acrocephalosyndactyly
        Pfeiffer syndrome
        Pfeiffer syndrome type 1

Professional guidelines

PubMed

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

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