Parietal Foramina 2; Pfm2
Description
Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Parietal Foramina 2; Pfm2
- Hypertelorism
- Abnormal facial shape
- Cryptorchidism
- Depressed nasal bridge
- Alopecia
- Upslanted palpebral fissure
- Brachycephaly
- Broad nasal tip
- Encephalocele
- Broad thumb
And another 10 symptoms. If you need more information about this disease we can help you.
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.Parietal Foramina 2; Pfm2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Frontonasal Dysplasia 2 - ALX4 Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
ALX4
Specificity
100 %
Genes
100 % |
Frontonasal Dysplasia 2 - ALX4 Del/Dup Analysis.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
ALX4
Specificity
100 %
Genes
100 % |
Craniosynostosis.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Craniofacial Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Craniofacial Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Facial Dysostosis Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 % |
ALX4. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ALX4
Specificity
100 %
Genes
100 % |
Craniofacial Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
You can get up to 32 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2