Seckel Syndrome

Description

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Intrauterine growth retardation
  • Downslanted palpebral fissures
  • Delayed skeletal maturation
  • Clinodactyly of the 5th finger

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available SECKEL SYNDROME have a estimated birth prevalence of 0.2 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Seckel Syndrome extracted from public data.

Seckel Syndrome Experts map



Current Researchs and researchers

  • FREIBURG — Pr Bernhard U ZABEL

    Investigator of research project - Coordinator of research network - Coordinator of biobank network

    • Institution/s:
      — Zentrum für Kinder- und Jugendmedizin Freiburg
      — Zentrum für Kinder- und Jugendmedizin Freiburg
    • Research area/topic::

      SKELNET: Skeletal Dysplasia Network - terminated


  • SCHLIEREN — Pr Anita RAUCH

    Coordinator of expert centre - Clinical geneticist - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Director of laboratory

    • Institution/s:
      — Universität Zürich
      — Universitäts - Kinderspital Zürich - Eleonorenstiftung
    • Research area/topic::

      Genetic causes of primary microcephaly


  • ZÜRICH — Pr Anita RAUCH

    Coordinator of expert centre - Clinical geneticist - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Director of laboratory

    • Institution/s:
      — Universität Zürich
      — Universitäts - Kinderspital Zürich - Eleonorenstiftung
    • Research area/topic::

      Genetic causes of primary microcephaly



Mendelian

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Seckel Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
25 %
Genes
78 %
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
10 %
Genes
78 %
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
9 %
Genes
78 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
12 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
78 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 265 more genes
Specificity
1 %
Genes
12 %
MVL Vision Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
12 %
PLK4.

By Fulgent Genetics Fulgent Genetics (United States).

PLK4
Specificity
100 %
Genes
12 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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