FGF9 gene related symptoms and diseases

All the information presented here about the FGF9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FGF9 gene

Symptoms // Phenotype % Cases
Broad thumb Very Common - Between 80% and 100% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
Metatarsal synostosis Uncommon - Between 30% and 50% cases
Metacarpal synostosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FGF9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hallux varus
  • Humeroradial synostosis
  • Cutaneous syndactyly of toes
  • Broad hallux
  • Cubitus valgus
  • Cutaneous syndactyly
  • Toe syndactyly
  • Dolichocephaly

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FGF9 gene

Here you will find a list of rare diseases related to the FGF9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MULTIPLE SYNOSTOSES SYNDROME


Alternate names

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome, facio-audio-symphalangism, symphalangism-brachydactyly syndrome, deafness-hermann type symphalangism syndrome

Description

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


More info about MULTIPLE SYNOSTOSES SYNDROME

SOURCES: ORPHANET

MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3


Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis


More info about MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

SOURCES: MESH OMIM


Potential gene panels for FGF9 gene

FGF9. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGF9 gene.

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

FGF9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FGF9 gene.

More info about this panel

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked Panel

Spain.

By Bioarray

This panel specifically test the FGF9 gene.

More info about this panel

SYNOSTOSIS, MULTIPLE Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNOSTOSIS, MULTIPLE that also includes the following genes: FGF9 GDF5 NOG

More info about this panel

Multiple Synostosis Syndrome Type 3 , Sequencing FGF9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGF9 gene.

More info about this panel

Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TTR FGF9 FLNB GDF5 HOXA11 NOG

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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