Ptosis coloboma mental retardation

Common Name(s)

Ptosis coloboma mental retardation

Ptosis, coloboma, mental retardation is a rare combination of features characterized by droopy eyelids, an irregular gap in the colored part of the eye (the iris), and intellectual disability. It has been suggested that this combination of features constitutes a unique genetic syndrome or condition. Currently the medical literature on the topic is still evolving.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ptosis coloboma mental retardation" 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 "Ptosis coloboma mental retardation" 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 "Ptosis coloboma mental retardation" returned 3 free, full-text research articles on human participants. First 3 results:

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
 

Author(s): A Verloes

Journal: J. Med. Genet.. 1993 May;30(5):425-6.

 

Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the ...

Last Updated: 5 Aug 1993

Go To URL
Iris coloboma, ptosis, hypertelorism, and mental retardation.
 

Author(s): B D Hall

Journal: J. Med. Genet.. 1989 Jan;26(1):69.

 

Last Updated: 6 Apr 1989

Go To URL
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
 

Author(s): M Baraitser, R M Winter

Journal: J. Med. Genet.. 1988 Jan;25(1):41-3.

 

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Last Updated: 25 Apr 1988

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 "Ptosis coloboma mental retardation" returned 1 free, full-text review articles on human participants. First 3 results:

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
 

Author(s): R Pallotta

Journal: J. Med. Genet.. 1991 May;28(5):342-4.

 

A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

Last Updated: 6 Sep 1991

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.