Marshall-smith Syndrome

Description

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

Clinical Features

Top most frequent phenotypes and symptoms related to Marshall-smith Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia

And another 100 symptoms. If you need more information about this disease we can help you.

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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

Marshall-smith Syndrome Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome.

Researches and researchers

Doctors, researchs, and experts related to Marshall-smith Syndrome extracted from public data.

Marshall-smith Syndrome Experts map



Current Researchs and researchers

  • AMSTERDAM — Pr R.C. [Raoul] HENNEKAM

    Clinical expert - Investigator of research project - Researcher

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
      — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      Genetic studies in Marshall-Smith Syndrome


  • GRONINGEN — Pr R.C. [Raoul] HENNEKAM

    Clinical expert - Investigator of research project - Researcher

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
      — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      Genetic studies in Marshall-Smith Syndrome


  • LONDON — Pr R.C. [Raoul] HENNEKAM

    Clinical expert - Investigator of research project - Researcher

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
      — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      Genetic studies in Marshall-Smith Syndrome


  • LONDON — Dr Adam SHAW

    Clinical expert - Investigator of research project

    • Institution/s:
      — 7th floor, Borough Wing, Guy's Hospital
      — UCL Institute of Child Health, University College London
    • Research area/topic::

      Genetic studies in Marshall-Smith Syndrome



Mendelian

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Marshall-smith Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
50 %
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
50 %
Macrocephaly.

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

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
10 %
Genes
50 %
Macrocephaly Deletion/Duplication Panel.

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

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
NFIX sequencing.

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

NFIX
Specificity
100 %
Genes
50 %
NFIX sequencing.

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

NFIX
Specificity
100 %
Genes
50 %
Macrocephaly Sequencing Panel.

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

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
NFIX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NFIX
Specificity
100 %
Genes
50 %

We have 41 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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