GSC gene related symptoms and diseases
All the information presented here about the GSC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GSC gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Proximal placement of thumb | Very Common - Between 80% and 100% cases |
Hip dislocation | Very Common - Between 80% and 100% cases |
Talipes | Very Common - Between 80% and 100% cases |
Hypotelorism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GSC gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Rhizomelia
- Abnormality of the genitourinary system
- Atresia of the external auditory canal
- Preauricular pit
- Conductive hearing impairment
- Dislocated radial head
- Short humerus
- Scaphocephaly
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GSC gene
Here you will find a list of rare diseases related to the GSC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME
Alternate names
SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome
Description
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.
Most common symptoms of SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME
- Short stature
- Hearing impairment
- Micrognathia
- Abnormal facial shape
- Cryptorchidism
More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME
Search interest in GSC
Potential gene panels for GSC gene
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panelGSC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GSC gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC12A2 ZDHHC9 PGM3 NALCN ZIC3 COL4A2 TNFAIP3