Features include always present findings: Rhizomelia, Short stature, Narrow greater sciatic notch, and Scapulohumeral synostosis and others; and common findings: Flared metaphysis, Preauricular pit, Short humerus, and Excessive inward curve of the lower back (lumbar hyperlordosis) and others. 30 total HPO annotations.

GSC encodes goosecoid homeobox (257 aa). Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. Highest expression in Breast Mammary Tissue (10.5 TPM) and Adipose Subcutaneous (6.1 TPM).

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is associated with mutations in the GSC gene on chromosome 14.

The GSC protein participates in Expression of GSC in definitive endoderm, EOMES, SMAD2,3, MIXL1 bind the GSC gene, and POU5F1 (OCT4), SOX2, NANOG bind the GSC promoter pathways.

GSC is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 10.4.

Genetic testing for GSC is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 11 always present features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).