EIF4A3 gene related symptoms and diseases

All the information presented here about the EIF4A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EIF4A3 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Acetabular dysplasia Very Common - Between 80% and 100% cases
Proximal placement of thumb Very Common - Between 80% and 100% cases
Hypoplasia of the ulna Very Common - Between 80% and 100% cases
Bilateral talipes equinovarus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EIF4A3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Mesomelia
  • Fibular hypoplasia
  • Pierre-Robin sequence
  • Short tibia
  • Abnormality of the larynx
  • Hip subluxation
  • Abnormality of the hand
  • Hypoplasia of the epiglottis

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EIF4A3 gene

Here you will find a list of rare diseases related to the EIF4A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RICHIERI COSTA-PEREIRA SYNDROME

Alternate names

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome, richieri-costa-pereira syndrome, rcps, short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Description

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

Most common symptoms of RICHIERI COSTA-PEREIRA SYNDROME

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


More info about RICHIERI COSTA-PEREIRA SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for EIF4A3 gene

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.

EIF4A3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EIF4A3 gene.

More info about this panel
United States.

Richieri-Costa-Pereira Syndrome , Sequencing EIF4A3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EIF4A3 gene.

More info about this panel
Spain.

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