Neurofibromatosis-noonan Syndrome

Description

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

Clinical Features

Top most frequent phenotypes and symptoms related to Neurofibromatosis-noonan Syndrome

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures
  • Dysphagia
  • Hypertrophic cardiomyopathy
  • Low-set, posteriorly rotated ears
  • Pulmonic stenosis
  • Webbed neck

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Neurofibromatosis-noonan Syndrome Is also known as nfns, neurofibromatosis type 1-noonan syndrome.

Researches and researchers

Doctors, researchs, and experts related to Neurofibromatosis-noonan Syndrome extracted from public data.

Neurofibromatosis-noonan Syndrome Experts map



Current Researchs and researchers

  • MAGDEBURG — Pr Martin ZENKER

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network - Director of department

    • Institution/s:
      — Universitätsklinikum Magdeburg A.ö.R
      — Universitätsklinikum Magdeburg A.ö.R
    • Research area/topic::

      GeNeRARe: German Network for RASopathies (coordination)


  • MAGDEBURG — Pr Oliver STORK

    Investigator of research project

    • Institution/s:
      — FNW/ Institut für Biologie, Otto-von-Guericke-Universität Magdeburg
    • Research area/topic::

      GeNeRARe: Neurobiology and neurocognitive function in mouse models of RASpathies



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Neurofibromatosis-noonan Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test.

By Athena Diagnostics Inc (United States).

NF1
Specificity
100 %
Genes
50 %
Neurofibromatosis Type 1 (NF1) Evaluation.

By Athena Diagnostics Inc (United States).

NF1
Specificity
100 %
Genes
50 %
Neurofibromatosis Type 1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NF1
Specificity
100 %
Genes
50 %
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
9 %
Genes
100 %
Neurofibromatosis Syndrome Type 1.

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

NF1
Specificity
100 %
Genes
50 %
Neurofibromatosis-Noonan syndrome.

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

NF1
Specificity
100 %
Genes
50 %
Neurofibromatosis 1 Sequencing.

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

NF1
Specificity
100 %
Genes
50 %
Neurofibromatosis 1 Deletion/Duplication analysis.

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

NF1
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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