Disease Overview
Mutations in human and/or mouse homologs are associated with this disease․ Synonyms⁚ chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with microcephaly and microphthalmos; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome․
Mutations in human and/or mouse homologs are associated with this disease․ Synonyms⁚ chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with microcephaly and microphthalmos; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome․
Phenotypic Overlap
Main Text․ There is substantial phenotypic overlap between MLCRD (microcephaly, primary lymphedema, and chorioretinal dysplasia) syndrome and CDMMR (chorioretinal dysplasia, microcephaly, and mental retardation) syndrome․ Both present with overlapping, yet variable CNS and ocular features․
Comparison between MLCRD and CDMMR
Both syndromes exhibit a spectrum of CNS and ocular features, with variable expressivity․ While MLCRD includes primary lymphedema, CDMMR is characterized by mental retardation․
Mutations and Synonyms
Mutations associated with this syndrome are found in human and/or mouse homologs․ Common synonyms include chorioretinal dysplasia-microcephaly-mental retardation syndrome and lymphedema-microcephaly-chorioretinal dysplasia syndrome․
Features of Microcephaly with Chorioretinopathy, Lymphedema, or Mental Retardation Syndrome
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects, and lymphedema․ It may present with variable expressivity and can be inherited or sporadic․
Genetic Inheritance
Associated with variable expressivity, this syndrome is typically inherited in an autosomal dominant pattern, with mutations identified in certain genes impacting disease manifestation․
Autosomal Dominant Inheritance and Variable Expression
This syndrome is commonly inherited in an autosomal dominant pattern, resulting in variable expressivity among affected individuals․ Mutations in specific genes play a role in the disease manifestation․
Diagnosis and Prevalence
The diagnosis of Microcephaly lymphoedema syndrome typically involves genetic testing due to its autosomal dominant inheritance pattern․ The prevalence of this syndrome is relatively rare․
Recommendations for Genetic Testing and Prevalence of MCLMR
Genetic testing is crucial for diagnosing Microcephaly lymphoedema syndrome due to its autosomal dominant inheritance․ The prevalence of this syndrome is relatively rare, emphasizing the importance of genetic screenings and awareness․
Nosology and Ocular Findings
There is a distinctive genetic association between microcephaly and lymphedema, leading to the proposal of naming this entity the ″Microcephaly-Lymphedema Syndrome․″ Learn more about ocular findings in this genetic syndrome․
Association of Microcephaly and Lymphoedema in Genetic Syndromes
The distinctive genetic association between microcephaly and lymphoedema has led to the proposal to name this entity the ″Microcephaly-Lymphoedema Syndrome․″ This rare genetic condition includes ocular disorders and intellectual disability․ Learn more about the ocular findings and features of this syndrome․