Autosomal Dominant Larsen Syndrome

Description

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Larsen Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cataract

And another 84 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 AUTOSOMAL DOMINANT LARSEN SYNDROME have a estimated birth prevalence of 0.4 per 100k worldwide.
No data available about the known clinical features onset.

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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Autosomal Dominant Larsen Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
FLNB. Complete sequencing.

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

FLNB
Specificity
100 %
Genes
100 %
FLNB. Sequencing of the exons 2-5 and exons 27-33.

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

FLNB
Specificity
100 %
Genes
100 %
Larsen Syndrome (sequence analysis of FLNB gene).

By CGC Genetics (Portugal).

FLNB
Specificity
100 %
Genes
100 %
Spondylocarpotarsal synostosis (sequence analysis of FLNB gene).

By CGC Genetics (Portugal).

FLNB
Specificity
100 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics (Portugal).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Larsen syndrome (deletion/duplication analysis on FLNB gene).

By CGC Genetics (Portugal).

FLNB
Specificity
100 %
Genes
100 %

We have 78 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 CANTU SYNDROME NEUROFIBROMATOSIS, TYPE II; NF2 ANHAPTOGLOBINEMIA; AHP

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