Seckel Syndrome 2; Sckl2

Description

Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome 2; Sckl2

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Motor delay
  • Microphthalmia
  • Hypospadias
  • Clinodactyly of the 5th finger

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Seckel Syndrome 2; Sckl2 Is also known as microcephalic primordial dwarfism 2, seckel-type dwarfism 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.


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Seckel Syndrome 2; Sckl2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Microcephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

STIL, SLC9A6, CDKL5, TCF4, UBE3A, RAB18, SLC25A19, ZEB2, CASK, PCNT, RAB3GAP1, RAB3GAP2, CENPJ, IER3IP1, CDK5RAP2, ASPM, TUBB3, WDR62, DHCR7, NIPBL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Seckel Syndrome Panel.

By Genetic Services Laboratory University of Chicago (United States).

NIN, PCNT, CENPJ, CEP63, CEP152, DNA2, TRAIP, LIG4, ATR, RBBP8
Specificity
10 %
Genes
100 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Seckel syndrome 2 (sequence analysis of RBBP8 gene).

By CGC Genetics (Portugal).

RBBP8
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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