Pfeiffer Syndrome

Description

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

Clinical Features

Top most frequent phenotypes and symptoms related to Pfeiffer Syndrome

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Low-set ears
  • High palate
  • Depressed nasal bridge
  • Brachydactyly

And another 50 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pfeiffer Syndrome Is also known as acrocephalosyndactyly, type v, noack syndrome, acs5, acs v.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Pfeiffer Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
2 %
Genes
100 %
NGS Craniosynostosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
29 %
Genes
100 %
FGFR2-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

FGFR2
Specificity
100 %
Genes
50 %
Fibroblast Growth Factor Receptor 2 (FGFR2)-related Disorders Sequencing.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

FGFR2
Specificity
100 %
Genes
50 %
LADD Syndrome, FGFR2.

By Center for Human Genetics, Inc (United States).

FGFR2
Specificity
100 %
Genes
50 %
Apert Syndrome - FGFR2 Targeted Mutation Testing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

FGFR2
Specificity
100 %
Genes
50 %
Beare-Stevenson Syndrome - FGFR2 Targeted Mutations.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

FGFR2
Specificity
100 %
Genes
50 %

We have 289 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 CORNEAL ENDOTHELIAL DYSTROPHY; CHED JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA ANALBUMINEMIA; ANALBA CANDIDIASIS, FAMILIAL, 2; CANDF2

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