Ogden Syndrome
Description
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Clinical Features
Top most frequent phenotypes and symptoms related to Ogden Syndrome
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Growth delay
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
And another 81 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
Ogden Syndrome Is also known as n-terminal acetyltransferase deficiency, premature aging appearance-developmental delay-cardiac arrhythmia syndrome, natd.
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.Ogden Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)
View the complete list with 94 more genes
Specificity
1 %
Genes
100 % |
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 67 more genes
Specificity
2 %
Genes
100 % |
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)
View the complete list with 153 more genes
Specificity
1 %
Genes
100 % |
X-linked Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYP, TSPAN7, MED12, UBE2A, ZNF41, ZNF711, ZNF81, FTSJ1, NSDHL, PCDH19 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Microphthalmia (NGS panel for 26 genes).
By CGC Genetics (Portugal).
BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
Microphthalmia, syndromic type 1 (deletion/duplication analysis of NAA10 gene).
By CGC Genetics (Portugal).
NAA10
Specificity
100 %
Genes
100 % |
You can get up to 27 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYNPOLYDACTYLY 1; SPD1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1