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.

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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

SOURCES: ORPHANET OMIM MESH


Potential gene panels for GSC gene

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel

Germany.

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 panel

GSC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GSC gene.

More info about this panel


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