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Sanjad-Sakati syndrome

Orpha number ORPHA2323
Synonym(s) HRD syndrome
Hypoparathyroidism - intellectual disability - dysmorphism
Hypoparathyroidism - short stature - intellectual disability - seizures
Middle-East syndrome
Richadson-Kirk syndrome
SSS
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Sanjad-Sakati syndrome (SSS) is characterized by congenital hypoparathyroidism, growth retardation, intellectual deficit, seizures, and dysmorphic features including microcephaly, facial, ocular and dental abnormalities, and short hands and feet. Prevalence is unknown. The disease is transmitted in an autosomal recessive manner. This syndrome shows similarity to the autosomal recessive form of Kenny-Caffey syndrome (KCS, see this term), sharing similar manifestations but not involving osteosclerosis and recurrent bacterial infections. Linkage analysis confirmed that SSS and KCS share the same common ancestral haplotype, mapping to the region 1q42-q43, and thus suggesting a common founder mutation. Moreover, recent studies demonstrated that both autosomal recessive KCS and SSS are caused by mutations (deletions, truncation mutations) in the tubulin-specific chaperone E (TBCE) gene. This gene encodes one of the chaperone proteins involved in the tubulin assembly pathway. The defect may alter trafficking, signal transduction and/or cellular migration.

Expert reviewer(s)

  • Dr Caroline SEVIN

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