SHORT syndrome and differential diagnosis [14 genes]

SHORT syndrome is a rare inherited disorder. Its name is an acronym for short stature, joint hyperextensibility and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay. Other common manifestations of SHORT syndrome are a characteristic facial appearance (triangular facies, absence of facial fat, hypoplasia of the nasal alae) and global or partial lipodystrophy and nephrocalcinosis. Cognitive development, however, is typically ordinary.

SHORT syndrome: <1 / 1,000,000 (ORPHA:3163).

The present exome-based service is the best strategy to address, with complete coverage, the PIK3R1 gene and simultaneously the differential diagnosis genes.

The benefits derived from a genetic diagnosis can range from family genetic counseling, typical of genetic studies in general, to the prevention or early diagnosis of associated comorbidities such as diabetes.

Service is indicated when there is a high suspicion of having the panel’s target disease. Otherwise, it is recommended to evaluate the indication of other panels, such as diseases with senile appearance, or evaluate a whole exome approach directed by phenotype.

All patients described in the literature with SHORT syndrome carry a variant in the DNA sequence detectable by NGS. The expected performance, when the clinical diagnosis is certain, would be around 100%.