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
Search interest in EIF4A3
Potential gene panels for EIF4A3 gene
qGenEx Craniofacial Anomalies Panel
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 panelEIF4A3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EIF4A3 gene.
More info about this panelRichieri-Costa-Pereira Syndrome , Sequencing EIF4A3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EIF4A3 gene.
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