Other Names for this Disease
- Sanjad-Sakati syndrome
- HRD syndrome
- Hypoparathyroidism with short stature, mental retardation and seizures
- Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
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hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. HRD is caused by mutations in the TBCE gene and is inherited in an autosomal recessive manner. Treatment is focused on management of symptoms such as the use of growth hormone to assist in growth.Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. Symptoms may include:
Last updated: 5/20/2016
- Sanjad-Sakati syndrome. Orphanet. April 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2323.
- 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.
- Victor A. McKusick. HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD. In: Marla J. F. O'Neill. OMIM. 2/24/2014; http://www.omim.org/entry/241410.
- 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-retardation-dysmorphism syndrome. Click on the link to view a sample search on this topic.
- 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.