FZD2 gene related symptoms and diseases

All the information presented here about the FZD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FZD2 gene

Symptoms // Phenotype % Cases
Short palm Very Common - Between 80% and 100% cases
Cryptorchidism Very Common - Between 80% and 100% cases
Frontal bossing Very Common - Between 80% and 100% cases
Long philtrum Very Common - Between 80% and 100% cases
Hypospadias Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FZD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Depressed nasal bridge
  • Short nose
  • Hypoplasia of penis
  • Micrognathia
  • Hypertelorism
  • Severe short stature
  • Elbow dislocation
  • Not very common - Between 30% and 50% cases

  • Abnormality of the gingiva

And 85 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to FZD2 gene

Here you will find a list of rare diseases related to the FZD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT ROBINOW SYNDROME


Description

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Most common symptoms of AUTOSOMAL DOMINANT ROBINOW SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

SOURCES: ORPHANET

AUTOSOMAL DOMINANT OMODYSPLASIA


Alternate names

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Description

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

Most common symptoms of AUTOSOMAL DOMINANT OMODYSPLASIA

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


More info about AUTOSOMAL DOMINANT OMODYSPLASIA

SOURCES: ORPHANET MESH OMIM


Potential gene panels for FZD2 gene

Robinow syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Robinow syndrome Comprehensive panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2

More info about this panel

Omodysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Omodysplasia Comprehensive panel that also includes the following genes: FZD2 GPC6

More info about this panel

Omodysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Omodysplasia NGS panel that also includes the following genes: FZD2 GPC6

More info about this panel

Robinow syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Robinow syndrome Deletion / Duplication panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2

More info about this panel

Omodysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Omodysplasia Deletion / Duplication panel that also includes the following genes: FZD2 GPC6

More info about this panel

FZD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FZD2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like INS-IGF2 ALG12 KRT6B DST TFAP2A AGRN

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more