Pfeiffer Syndrome Type 2

Description

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Pfeiffer Syndrome Type 2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • High palate
  • Depressed nasal bridge
  • Respiratory distress
  • Hydrocephalus

And another 25 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.

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 Type 2 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
100 %
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
1 %
Genes
100 %
NGS Craniosynostosis Panel.

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

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 %
FGFR2-related disorders.

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

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

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

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

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

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

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

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

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

FGFR2
Specificity
100 %
Genes
100 %

We have 194 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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