Hypoparathyroidism retardation dysmorphism syndrome

Common Name(s)

Hypoparathyroidism retardation dysmorphism syndrome

HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by {7:Padidela et al., 2009} and {10:Ratbi et al., 2015}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypoparathyroidism retardation dysmorphism syndrome" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

Last Updated: 1 Apr 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypoparathyroidism retardation dysmorphism syndrome" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

http://www.hpth.org.uk

Last Updated: 1 Apr 2013

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypoparathyroidism retardation dysmorphism syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.
 

Author(s): R Parvari, E Hershkovitz, A Kanis, R Gorodischer, S Shalitin, V C Sheffield, R Carmi

Journal: Am. J. Hum. Genet.. 1998 Jul;63(1):163-9.

 

The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypoparathyroidism retardation dysmorphism syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
 

Status: Recruiting

Condition Summary: Velocardiofacial Syndrome; Williams Syndrome; Fragile X Syndrome

 

Last Updated: 20 Jul 2017

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