Sanjad-Sakati syndrome, also called Middle East syndrome, is a rare autosomal recessive genetic condition seen in children of Middle Eastern origin. It was first described in Saudi Arabia, and cases have since been reported in Qatari, Kuwaiti and Omani children and in children from other parts of the Middle East and elsewhere. The cause is mutations or deletions in the TBCE gene on chromosome 1. The condition is defined by a triad of features: growth retardation together with intellectual disability, hypoparathyroidism, and dysmorphism, meaning characteristic differences in physical appearance. Its geographic pattern, concentrated in families of one region, is typical of recessive disorders that pass through related parents.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Orphadata (Orphanet): Orphadata cross-references for ORPHA:2323 Sanjad-Sakati syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q87.1", "Source": "ICD-10"
2. National Cancer Institute (NCI Thesaurus): Sanjad-Sakati syndrome - NCI Thesaurus concept C133727
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E.
3. Sanjad-Sakati syndrome (Wikipedia)
Lead paragraph
rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin
Lead
Sanjad-Sakati syndrome (Middle East syndrome) is a rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin.
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