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.
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
Search interest in FZD2
Potential gene panels for FZD2 gene
Robinow syndrome Comprehensive panel Panel
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 panelOmodysplasia Comprehensive panel Panel
By Connective Tissue Gene Tests Omodysplasia Comprehensive panel that also includes the following genes: FZD2 GPC6
More info about this panelOmodysplasia NGS panel Panel
By Connective Tissue Gene Tests Omodysplasia NGS panel that also includes the following genes: FZD2 GPC6
More info about this panelRobinow syndrome Deletion / Duplication panel Panel
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 panelOmodysplasia Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Omodysplasia Deletion / Duplication panel that also includes the following genes: FZD2 GPC6
More info about this panelFZD2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FZD2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FUCA1 PIGN PGM3 ABAT ANLN TEX14 ZDHHC15