Spondyloepiphyseal Dysplasia, Maroteaux Type
Description
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Clinical Features
Top most frequent phenotypes and symptoms related to Spondyloepiphyseal Dysplasia, Maroteaux Type
- Intellectual disability
- Short stature
- Intellectual disability, mild
- Pectus excavatum
- Clinodactyly
- Severe short stature
- Platyspondyly
- Wide intermamillary distance
- Small nail
- Metaphyseal irregularity
And another 1 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
Spondyloepiphyseal Dysplasia, Maroteaux Type Is also known as sed, maroteaux type, brachyolmia, maroteaux type, pseudo-morquio syndrome type 2, pseudo-morquio syndrome, type 2.
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.Spondyloepiphyseal Dysplasia, Maroteaux Type Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
CMT Advanced Evaluation - Dominant.
By Athena Diagnostics Inc (United States).
YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
8 %
Genes
100 % |
CMT Advanced Evaluation - Dominant, Axonal.
By Athena Diagnostics Inc (United States).
YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
100 % |
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
100 % |
CMT Advanced Evaluation - Axonal.
By Athena Diagnostics Inc (United States).
YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
100 % |
TRPV4 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
TRPV4
Specificity
100 %
Genes
100 % |
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
100 % |
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2
Specificity
10 %
Genes
100 % |
CMT Advanced Evaluation - Nonprevalent Axonal.
By Athena Diagnostics Inc (United States).
YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A
Specificity
10 %
Genes
100 % |
You can get up to 155 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 MYOPATHY, DISTAL, 5; MPD5 ISOLATED PIERRE ROBIN SYNDROME FEINGOLD SYNDROME 1; FGLDS1 STUVE-WIEDEMANN SYNDROME CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4