Sanjad-Sakati Syndrome in Jordan: Clinical Features, Comorbidities, and Mortality Rate.

BACKGROUND

Sanjad-Sakati Syndrome (SSS) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, dysmorphic features, and severe growth failure. This study aims to examine the clinical picture, comorbidities, and mortality rate of SSS in Jordan.

METHODS

This retrospective study included all patients diagnosed with SSS at the pediatric endocrinology clinics of Queen Rania Al Abdullah Hospital for Children, Amman, Jordan, between January 2002 and August 2025. Twenty-two children were evaluated for demographic characteristics, growth parameters, biochemical findings, comorbidities, and mortality rate.

RESULTS

Of the 22 patients (age range: 4 months-23 years), 14 were male and 8 were female. All patients presented with low birth weight, dysmorphic features, hypocalcemia, congenital hypoparathyroidism, and short stature. Parental consanguinity was recorded in 88.8% of the families. Nephrocalcinosis occurred in 31.8% of the patients ( n  = 7), chronic intestinal pseudo-obstruction in 22.7% ( n  = 5), and subclinical hypothyroidism in 9.1% ( n  = 2). Ten patients (45.5%) died, most commonly due to pneumonia and sepsis.

CONCLUSION

Patients with SSS in Jordan consistently presented with congenital hypoparathyroidism, developmental delay, intellectual disability, and severe growth failure. Frequent comorbidities include nephrocalcinosis, dental anomalies, intestinal pseudo-obstruction, and complications from chronic calcium therapy. These comorbidities are associated with increased mortality rate in SSS.