Facial Paresis, Hereditary Congenital, 3; Hcfp3

Description

HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Clinical Features

Top most frequent phenotypes and symptoms related to Facial Paresis, Hereditary Congenital, 3; Hcfp3

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Ptosis
  • Low-set ears
  • High palate
  • Feeding difficulties
  • Delayed speech and language development

And another 20 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.

Researches and researchers

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Facial Paresis, Hereditary Congenital, 3; Hcfp3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
HOXB1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

HOXB1
Specificity
100 %
Genes
100 %
Facial paresis, hereditary congenital, type 3 (sequence analysis of HOXB1 gene).

By CGC Genetics (Portugal).

HOXB1
Specificity
100 %
Genes
100 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics (Portugal).

SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics (Portugal).

SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROBO3, SALL4, KIF21A, CHN1, TUBB3, TUBB2B, ECEL1, HOXA1, HOXB1, PHOX2A
Specificity
10 %
Genes
100 %
Facial paresis type 3.

By Centogene AG - the Rare Disease Company (Germany).

HOXB1
Specificity
100 %
Genes
100 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH (Germany).

SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %

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Sources and references

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OMIM Rare Disease Symptoms Checker

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