Smith-magenis Syndrome

Description

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

Clinical Features

Top most frequent phenotypes and symptoms related to Smith-magenis Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Muscular hypotonia

And another 65 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 Smith-magenis Syndrome have a estimated prevalence of 4 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Smith-magenis Syndrome Is also known as 17p11.2 microdeletion syndrome.

Researches and researchers

Doctors, researchs, and experts related to Smith-magenis Syndrome extracted from public data.

Smith-magenis Syndrome Experts map



Current Researchs and researchers

  • ILLKIRCH-GRAFFENSTADEN — Pr Jean-Louis MANDEL

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


  • STRASBOURG — Pr Jean-Louis MANDEL

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques



Mendelian

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Smith-magenis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RAI1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RAI1
Specificity
100 %
Genes
25 %
RAI1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

RAI1
Specificity
100 %
Genes
25 %
RAI1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RAI1
Specificity
100 %
Genes
25 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
2 %
Genes
75 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
Syndromic Autism Panel.

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

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
25 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
25 %
RAI1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RAI1
Specificity
100 %
Genes
25 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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