Presentation
One family presented with polycystic kidney disease, which however was not considered to be associated with this syndrome. [accessanesthesiology.mhmedical.com]
Figure 1 Microdeletion at 10q23.33 encompassing the KIF11 gene detected in the father and two children presenting microcephaly, mild intellectual disability and chorioretinopathy. [nature.com]
Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. [uniprot.org]
Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally 4. [centogene.com]
Dysmorphic features were present in most patients. Chromosome studies were normal, except for one patient with ring chromosome 14. [tandfonline.com]
Entire Body System
- Lymphedema
(deposited 31 Aug 2012 08:31) [Currently Displayed] Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. (deposited 05 Aug 2014 08:33) Actions (login required) Edit Item [openaccess.sgul.ac.uk]
[…] signed off version: v2.2 (2 Mar 2020) review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources NHS GMS Expert Review Green UKGTN Other Radboud University Medical Center, Nijmegen Phenotypes Microcephaly with or without chorioretinopathy, lymphedema [panelapp.genomicsengland.co.uk]
Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. [pubmed.ncbi.nlm.nih.gov]
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.. [dial.uclouvain.be]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
Treatment for patients affected with microcephaly commonly includes supportive therapy, including special education, speech and language therapy, behavioral therapy, occupational therapy, and community services for families. [centogene.com]
Pathophysiology
A better elucidation of the pathophysiological mechanisms is needed to enable development of targeted therapies for MCLMR. [ojrd.biomedcentral.com]