Nasopalpebral lipoma coloboma syndrome

Common Name(s)

Nasopalpebral lipoma coloboma syndrome

Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by {7:Suresh et al., 2011}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nasopalpebral lipoma coloboma syndrome" for support, advocacy or research.

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

 

 

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 "Nasopalpebral lipoma coloboma syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.
 

Author(s): Oscar F Chacón-Camacho, Nara Sobreira, Jing You, Raul E Piña-Aguilar, Vanessa Villegas-Ruiz, Juan C Zenteno

Journal: Am. J. Med. Genet. A. 2016 Jul;170(7):1934-7.

 

Nasopalpebral lipoma-coloboma syndrome (NPLCS, OMIM%167730) is an uncommon malformation entity with autosomal dominant inheritance characterized by the combination of nasopalpebral lipoma, colobomas in upper and lower eyelids, telecanthus, and maxillary hypoplasia. To date, no genetic ...

Last Updated: 17 Jun 2016

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Nasopalpebral lipoma coloboma syndrome.
 

Author(s): N Suresh Babu, D Raviprakash, Ravi Kumar

Journal: Indian J Ophthalmol. ;59(5):379-80.

 

Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose ...

Last Updated: 12 Aug 2011

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Reviews from the PubMed Database

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The terms "Nasopalpebral lipoma coloboma syndrome" returned 0 free, full-text review articles on human participants.

 
 
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