Laron Syndrome

Description

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

Clinical Features

Top most frequent phenotypes and symptoms related to Laron Syndrome

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly
  • Delayed skeletal maturation
  • Severe short stature
  • High forehead
  • Hypoglycemia
  • Delayed puberty

And another 19 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 LARON SYNDROME have a estimated prevalence of 0.3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Laron Syndrome Is also known as complete growth hormone insensitivity, primary growth hormone insensitivity, gh receptor deficiency, growth hormone receptor deficiency, laron-type dwarfism, short stature due to growth hormone resistance, pituitary dwarfism ii, primary growth hormone resistance.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Laron Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GHR (SS) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GHR
Specificity
100 %
Genes
100 %
Laron Syndrome (GHR mutations).

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

GHR
Specificity
100 %
Genes
100 %
GHR. Complete sequencing.

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

GHR
Specificity
100 %
Genes
100 %
Laron syndrome (sequence analysis of GHR gene).

By CGC Genetics (Portugal).

GHR
Specificity
100 %
Genes
100 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics (Portugal).

ABCG5, ABCG8, APTX, PPP1R17, LDLRAP1, PCSK9, EPHX2, GHR, ITIH4, LDLR, LIPA, LRP6
Specificity
9 %
Genes
100 %
Familial Hypercholesterolemia, Autosomal Dominant, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

GHR, LDLR
Specificity
50 %
Genes
100 %
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GHR
Specificity
100 %
Genes
100 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests (United States).

SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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