Overview
Sanjad-Sakati syndrome is a rare genetic disorder characterized by severe intrauterine growth retardation, short stature, microcephaly, blue sclerae, hypocalcemia, and hypoparathyroidism, often associated with intellectual disability and neurological abnormalities 2.Diagnosis
Severe intrauterine growth retardation and short stature
Microcephaly and small hands/feet
Blue sclerae and deep-set eyes
Persistent hypocalcemia and hypoparathyroidism
Oligodontia/hypodontia and characteristic facial features (microcephaly, thin lips, beaked nose, low-set ears, retrognathic mandible) 1
Genetic testing revealing homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene 2Management
Endocrinological Management: Regular monitoring and management of hypocalcemia and hypoparathyroidism; specific drug classes include calcium and vitamin D analogs (dose specifics not provided) 2
Dental Care: Comprehensive oral rehabilitation including full coverage prosthetic crowns, stainless steel crowns, and removable partial prostheses to address oligodontia/hypodontia and malocclusion 1
Multidisciplinary Approach: Addressing intellectual, neurological, and endocrine abnormalities through coordinated care involving specialists 1Special Populations
Pediatrics: Early intervention for dental anomalies and developmental support crucial 1
Comorbidities: Management of intellectual disability and neurological issues alongside endocrine complications 12Key Recommendations
Perform genetic testing for TBCE gene mutations to confirm diagnosis (Evidence: Strong 2)
Regularly monitor and manage hypocalcemia and hypoparathyroidism with appropriate endocrinological interventions (Evidence: Moderate 2)
Implement comprehensive dental care strategies to address orofacial anomalies and ensure oral health (Evidence: Weak 1)References
1 Hassona Y, Rajab L, Taimeh D, Scully C. Sanjad-Sakati Syndrome: Oral Health Care. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2018. link
2 Naguib KK, Gouda SA, Elshafey A, Mohammed F, Bastaki L, Azab AS et al.. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit 2009. link