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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypoparathyroidism-intellectual disability-dysmorphism syndrome


Other Names for this Disease
  • Sanjad-Sakati syndrome
  • HRD syndrome
  • Hypoparathyroidism with short stature, intellectual disability and seizures
  • Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
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Overview

Hypoparathyroidism-intellectual disability-dysmorphism syndrome  is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. It is caused by mutations in the TBCE gene and is inherited in an autosomal recessive manner.[1][2] Treatment is focused on management of symptoms such as the use of growth hormone to assist in growth.[3]
Last updated: 5/20/2016

References

  1. Sanjad-Sakati syndrome. Orphanet. April 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2323.
  2. K K Naguib, S A Gouda, A Elshafey, F Mohammed, L Bastaki, AS Azab, SA Alawadi. Sanjad–Sakati syndrome/Kenny–Caffey syndrome type 1: A study of 21 cases in Kuwait. Eastern Mediterranean Health Journal. 2009; 15(2):345-352. http://applications.emro.who.int/emhj/1502/15_2_2009_0345_0352.pdf. Accessed 5/20/2016.
  3. Victor A. McKusick. HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD. In: Marla J. F. O'Neill. OMIM. 2/24/2014; http://www.omim.org/entry/241410.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypoparathyroidism-intellectual disability-dysmorphism syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Sanjad-Sakati syndrome
  • HRD syndrome
  • Hypoparathyroidism with short stature, intellectual disability and seizures
  • Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.