PLCB4 gene related symptoms and diseases

All the information presented here about the PLCB4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PLCB4 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Full cheeks Very Common - Between 80% and 100% cases
Hypoplastic superior helix Very Common - Between 80% and 100% cases
Overfolding of the superior helices Very Common - Between 80% and 100% cases
Speech articulation difficulties Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PLCB4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Mandibular condyle aplasia
  • Snoring
  • Cleft at the superior portion of the pinna
  • Generalized hypotonia
  • Ankylosis
  • Glossoptosis
  • Cupped ear
  • Preauricular skin tag

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PLCB4 gene

Here you will find a list of rare diseases related to the PLCB4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AURICULOCONDYLAR SYNDROME

Alternate names

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome, question mark ears syndrome

Description

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

Most common symptoms of AURICULOCONDYLAR SYNDROME

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


More info about AURICULOCONDYLAR SYNDROME

SOURCES: ORPHANET OMIM

AURICULOCONDYLAR SYNDROME 2; ARCND2

Description

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Most common symptoms of AURICULOCONDYLAR SYNDROME 2; ARCND2

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

SOURCES: OMIM


Potential gene panels for PLCB4 gene

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel
United States.

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel
United States.

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel
United States.

Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PLCB4 gene.

More info about this panel
Portugal.

Auriculocondylar syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PLCB4 gene.

More info about this panel
Germany.

Auriculocondylar syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PLCB4 gene.

More info about this panel
Germany.

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel
Spain.

PLCB4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PLCB4 gene.

More info about this panel
United States.

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