Microcephalic osteodysplastic primordial dwarfism type 1

Common Name(s)

Microcephalic osteodysplastic primordial dwarfism type 1, MOPD I, Microcephalic osteodysplastic primordial dwarfism type 3, MOPD III

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microcephalic osteodysplastic primordial dwarfism type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microcephalic osteodysplastic primordial dwarfism type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Microcephalic osteodysplastic primordial dwarfism type 1" returned 1 free, full-text research articles on human participants. First 3 results:

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
 

Author(s): Anne B Krøigård, Andrew P Jackson, Louise S Bicknell, Emma Baple, Klaus Brusgaard, Lars K Hansen, Lilian B Ousager

Journal: Clin. Dysmorphol.. 2016 Apr;25(2):68-72.

 

Last Updated: 1 Mar 2016

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Microcephalic osteodysplastic primordial dwarfism type 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

New Variants Involved in Taybi-Linder Syndrome
 

Status: Not yet recruiting

Condition Summary: Taybi Linder Syndrome; Genetic Syndrome

 

Last Updated: 18 Jul 2017

Go to URL