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hrp0098fc10.6 | Multisystem Endocrine Disorders | ESPE2024

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

Almutair Angham , Tischlinger Katharina , Al Subaihin Abdlmajeed , Al Dibasi Omar , Al Ghanam Suliman , Ghamdi Hadeel , Melha Maali , Alanazi Aisha , AlSaedi Abdulaziz , Althobaiti Enad , Al Senani Aisha , Al Azkawi Hanan , Al Enezi Ayed , Bakkar Ayman , Ali Ahmed , Al Juraibah Fahad , Alyaarubi Saif , Al Sagheir Afaf , Hogler Wolfgang

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

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hrp0098p1-221 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

A 10-year non-interventional registry of patients with FGF23-related hypophosphatemic rickets and osteomalacia in Gulf Cooperation Council (GCC)

Al Dubayee Mohammed , Habeb Abdelhadi , Al-fares Abdulah , Alsubaihin Abdulmajeed , Alsagheir Afaf , Noman Ahmad , Sumaily Ahmad , Yousif Ahmed , Al Senani Aisha , Al Mamari Ali , Al Zahrani Ali , Deeb Asma , Al Anezi Ayed , Al Shidhani Azza , Al Jalsi Bader , Chaturvedi Deepti , Eltahan Eslam , Al Juraibah Fahad , Al Sharif Faisal , Mansor Fera , Samir George , Gasim Hala , Al Azkawi Hanan , Saeed Yamin Haneen , Ali Mundi Hasan , Alkandari Hessa , Alotaibi Hessah , Al Saffar Hussain , Al Jubeh Jamal , AlKanhal Khalid , Eid Loai , Zulf Mughal M , Khadora Manal , Al Badi Maryam , Abdeldayem Mohamed , A Fouda Mona , Al Yahyaei Mouza , Sobaihi Mrouge , Al Zahrani Munera , Shaukat Nadia , Fawzi Nagla , Al Harthi Najat , Attia Najya , Mohammed Ohoud , Al Yaarubi Saif , Al Aidarous Salwa , Al Shammari Sameer , Fiad Tarek , Al Hakami Yasser

Background: Data on FGF23-related Hypophosphatemic rickets (HR)/osteomalacia in GCC are sparse. This observational registry aims to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR/osteomalacia in GCC, effectiveness and safety of treatments, quality of life and healthcare resource utilization.Methods: This multicenter registry aims to enroll 200 patie...

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ESPE Abstracts

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

A 10-year non-interventional registry of patients with FGF23-related hypophosphatemic rickets and osteomalacia in Gulf Cooperation Council (GCC)

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