Craniofrontonasal Dysplasia

Description

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniofrontonasal Dysplasia

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Strabismus

And another 91 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Craniofrontonasal Dysplasia Is also known as cfnd, cfns, craniofrontonasal syndrome, craniofrontonasal dysostosis, craniofrontonasal dysplasia.

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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Craniofrontonasal Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniofrontonasal Dysplasia - EFNB1 Sequencing.

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

EFNB1
Specificity
100 %
Genes
100 %
Craniofrontonasal Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

EFNB1
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 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
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 %
EFNB1 Gene Sequencing.

By GeneDx (United States).

EFNB1
Specificity
100 %
Genes
100 %

We have 51 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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