Yunis-varon Syndrome
Description
Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Clinical Features
Top most frequent phenotypes and symptoms related to Yunis-varon Syndrome
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Growth delay
- Hypertelorism
- Failure to thrive
- Micrognathia
And another 150 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Yunis-varon Syndrome Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, cleidocranial dysplasia-micrognathia-absent thumbs syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Yunis-varon Syndrome Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 CMT Advanced Evaluation - Recessive, Demyelinating.
By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, MTMR2, NDRG1
Specificity
13 %
Genes
50 % |
|
CMT Advanced Evaluation - Comprehensive.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
50 % |
|
CMT Advanced Evaluation - Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22
Specificity
7 %
Genes
50 % |
|
CMT Advanced Evaluation - Recessive.
By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
50 % |
|
FIG4 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
FIG4
Specificity
100 %
Genes
50 % |
|
CMT Advanced Evaluation - Nonprevalent.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
50 % |
|
Amyotrophic Lateral Sclerosis Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
50 % |
|
CMT Advanced Evaluation - Nonprevalent Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22
Specificity
8 %
Genes
50 % |
You can get up to 90 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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