Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome

Description

Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Cryptorchidism
  • Low-set ears
  • Cognitive impairment

And another 51 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome Is also known as minds syndrome, macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, smith-kingsmore syndrome.

Researches and researchers

Doctors, researchs, and experts related to Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome extracted from public data.

Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome Experts map



Current Researchs and researchers

  • MONTPELLIER — Dr Anne DEBANT

    Investigator of research project

    • Institution/s:
      — Centre de Recherche en Biologie cellulaire
    • Research area/topic::

      Contribution of de novo mutations in the trio gene in intellectual disability: development of a trio knock-in mouse model mimicking the human disease


Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

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

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Segmental Overgrowth Disorders - NGS panel (8 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

TSC1, TSC2, AKT1, AKT3, MTOR, PIK3CA, PIK3R2, PTEN
Specificity
13 %
Genes
100 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
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
100 %

You can get up to 32 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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