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Hypoparathyroidism, Dwarfism, Medullary Stenosis of Long Bones, and Eye Abnormalities (Kenny-Caffey Syndrome) and Hypoparathyroidism, Retardation, and Dysmorphism (Sanjad-Sakati) Syndrome

  • Eli Hershkovitz
  • Ruti ParvariEmail author
Chapter

Abstract

The syndrome of hypoparathyroidism, retardation (of growth and mental development) with dysmorphic features, HRD syndrome, also known as Sanjad-Sakati syndrome has been described mostly in Arab patients and is inherited by an autosomal recessive mode. The dominantly inherited Kenny-Caffey syndrome is currently recognized to be allelic to a lethal disorder, osteocraniostenosis (OCS). KCS and HRD share the clinical presentation of hypoparathyroidism, the facial dysmorphic features of deep-set eyes, and micrognathia and dental anomalies. However, KCS/OCS and HRD syndrome are separate clinical and genetic disorders. KCS/OCS is caused by heterozygous mutations in the FAM111A gene, while HRD syndrome is observed in patients with homozygous or compound heterozygous mutations of the TBCE gene. The currently known functions of these genes cannot explain the clinical symptoms, thus further research into their mode of function is needed.

Keywords

Hypoparathyroidism Dwarfism Medullary stenosis of long bones Eye abnormalities Kenny-Caffey Syndrome Retardation Dysmorphism Sanjad-Sakati syndrome TBCE FAM111A 

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Copyright information

© Springer-Verlag Italia 2015

Authors and Affiliations

  1. 1.Pediatric Endocrinology Unit, Soroka Medical Center and Faculty of Health SciencesBen Gurion University of the NegevBeer ShevaIsrael
  2. 2.Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health SciencesBen Gurion University of the Negev and National Institute of Biotechnology NegevBeer ShevaIsrael

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