Smith-lemli-opitz Syndrome

Description

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

Clinical Features

Top most frequent phenotypes and symptoms related to Smith-lemli-opitz Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism

And another 204 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-LEMLI-OPITZ SYNDROME have a estimated birth prevalence of 3.7 per 100k worldwide.
— The onset for some of the known clinical features related to this disease may vary, including infantile onset, and childhood onset .

Alternative names

Smith-lemli-opitz Syndrome Is also known as rutledge lethal multiple congenital anomaly syndrome, slos, lethal acrodysgenital syndrome, rsh syndrome, slo syndrome, 7-dehydrocholesterol reductase deficiency, polydactyly, sex reversal, renal hypoplasia, and unilobar lung.

Researches and researchers

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

Smith-lemli-opitz Syndrome Experts map



Current Researchs and researchers

  • PRAGUE — Dr Kevin FRANCIS

    Investigator of research project

    • Institution/s:
      — Faculty of Medicine and University Hospital Motol
    • Research area/topic::

      Mechanisms underlying neural phenotypes of cholesterol synthesis disorders


  • HUDDINGE — Pr Ingemar BJÖRKHEM

    Investigator of research project

    • Institution/s:
      — Department of Laboratory Medicine, Karolinska Institutet - Huddinge
    • Research area/topic::

      Oxysterols in health and disease


  • HUDDINGE — Pr Ulf DICZFALUSY

    Investigator of research project

    • Institution/s:
      — Department of Laboratory Medicine, Karolinska Institutet - Huddinge
    • Research area/topic::

      Oxysterols in health and disease



Mendelian

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Smith-lemli-opitz Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DHCR7 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DHCR7
Specificity
100 %
Genes
100 %
DHCR7 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

DHCR7
Specificity
100 %
Genes
100 %
DHCR7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

DHCR7
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Smith-Lemli-Opitz (DHCR7) DNA Test.

By Athena Diagnostics Inc (United States).

DHCR7
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI PACHYONYCHIA CONGENITA 3; PC3 LACTOSE INTOLERANCE, ADULT TYPE CHROMOSOME 1p36 DELETION SYNDROME

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