Microcephaly - lymphedema - chorioretinopathy

Common Name(s)

Microcephaly - lymphedema - chorioretinopathy, Chorioretinopathy dominant form microcephaly

Microcephaly - lymphedema - chorioretinopathy is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. The main birth defects present included microcephaly (small head size), eye problems (chorioretinopathy), swelling of the lower legs (lymphedema) and mild to moderate intellectual disability. The severity of features may be variable even in the same family. Characteristic facial features are also present and may include upslanted eyes, broad nose with rounded tip, upturned nostrils and thin upper lip with prominent ears and chin. Multiple disorders of the eye can be present and may include degeneration of the choroid (back lining of the eye), small eyes, retinal folds which are circular folds or patterns on the retina (the part of the eye that receives light and sends signals to the brain), and astigmatism (irregular curvature of the cornea or the front part of the eye). Lymphedema when present is typically noted at birth. The swelling may affect both sides (bilateral), and is usually limited to the feet. Epilepsy (seizure disorder) and congenital heart defects may be rare findings in this disorder. Although there is currently no cure for microcephaly - lymphedema - chorioretinopathy, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by microcephaly - lymphedema - chorioretinopathy

Microcephaly - lymphedema - chorioretinopathy is inherited in an autosomal dominant pattern. This means that the individual only needs to have one copy of the changed gene that causes this disorder in order to have symptoms. As symptoms are variable among affected individuals, a full physical exam and family history discussion is important. Genetic counseling is useful for a better understanding of recurrence risks in additional family members.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microcephaly - lymphedema - chorioretinopathy" 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 "Microcephaly - lymphedema - chorioretinopathy" returned 3 free, full-text research articles on human participants. First 3 results:

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
 

Author(s): Irina Balikova, Anthony G Robson, Graham E Holder, Pia Ostergaard, Sahar Mansour, Anthony T Moore

Journal: Acta Ophthalmol. 2016 Feb;94(1):92-8.

 

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations.

Last Updated: 31 Dec 1969

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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
 

Author(s): Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy J L de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula

Journal:

 

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and ...

Last Updated: 31 Dec 1969

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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
 

Author(s): Pia Ostergaard, Michael A Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C Connell, Andreas van Impel, Anthony T Moore, Bart L Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G Leroy, Lut van Laer, Amihood Singer, Martin G Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S Mortimer, Sahar Mansour, Steve Jeffery

Journal: Am. J. Hum. Genet.. 2012 Feb;90(2):356-62.

 

We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema ...

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 "Microcephaly - lymphedema - chorioretinopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.