Legius Syndrome

Description

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

Clinical Features

Top most frequent phenotypes and symptoms related to Legius Syndrome

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • High palate
  • Epicanthus
  • Macrocephaly
  • Downslanted palpebral fissures

And another 18 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available LEGIUS SYNDROME have a estimated birth prevalence of 2.2 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Legius Syndrome Is also known as nfls, neurofibromatosis type 1-like syndrome, nf1-like syndrome, neurofibromatosis 1-like syndrome.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Legius Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS RASopathy Panel.

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

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
NF1-Like/Legius Syndrome.

By Center for Human Genetics, Inc (United States).

SPRED1
Specificity
100 %
Genes
100 %
SPRED1 sequencing.

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

SPRED1
Specificity
100 %
Genes
100 %
SPRED1 Deletion/Duplication analysis.

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

SPRED1
Specificity
100 %
Genes
100 %
Noonan Spectrum Disorders Panel.

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

RIT1, BRAF, SOS1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1
Specificity
8 %
Genes
100 %
Legius Syndrome - SPRED1 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SPRED1
Specificity
100 %
Genes
100 %
Rasopathy NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

RIT1, RRAS, BRAF, SOS1, SOS2, ACTB, ACTG1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, PTPN11, RAF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %

We have 107 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM 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 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO MYOTONIA, POTASSIUM-AGGRAVATED BILE ACID MALABSORPTION, PRIMARY; PBAM ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more