RIPPLY2 gene related symptoms and diseases
All the information presented here about the RIPPLY2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RIPPLY2 gene
Symptoms // Phenotype | % Cases |
---|---|
Scoliosis | Very Common - Between 80% and 100% cases |
Kyphosis | Common - Between 50% and 80% cases |
Abnormality of cardiovascular system morphology | Common - Between 50% and 80% cases |
Cleft palate | Common - Between 50% and 80% cases |
Cervical C2/C3 vertebral fusion | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with RIPPLY2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the ribs
- Macrocephaly
- Short neck
- Hemivertebrae
Not very common - Between 30% and 50% cases
- Low posterior hairline
- Otitis media
- Webbed neck
- Intestinal malrotation
And 84 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RIPPLY2 gene
Here you will find a list of rare diseases related to the RIPPLY2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
Alternate names
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies, jarcho-levin syndrome, spondylothoracic dysplasia, spondylothoracic dysostosis, costovertebral dysplasia
Description
Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
Most common symptoms of AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Cleft palate
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
Alternate names
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant, kfs
Description
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
Most common symptoms of KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Cleft palate
- Macrocephaly
SOURCES: OMIM
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6
Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6
- Scoliosis
- Kyphosis
- Hemivertebrae
- Spinal canal stenosis
- Thoracic scoliosis
SOURCES: OMIM
Search interest in RIPPLY2
Potential gene panels for RIPPLY2 gene
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panelSpondylocostal dysostosis (NGS panel of 6 genes) Panel
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panelSpondylocostal dysostosis (NGS panel of 6 genes) Panel
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panelKlippel-Feil syndrome (NGS panel for 5 genes) Panel
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panelSpondylocostal dysostosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Spondylocostal dysostosis Deletion / Duplication panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panelSpondylocostal dysostosis Comprehensive panel Panel
By Connective Tissue Gene Tests Spondylocostal dysostosis Comprehensive panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panelSpondylocostal dysostosis NGS panel Panel
By Connective Tissue Gene Tests Spondylocostal dysostosis NGS panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panelKlippel-Feil syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Klippel-Feil syndrome Comprehensive panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panelKlippel-Feil syndrome NGS panel Panel
By Connective Tissue Gene Tests Klippel-Feil syndrome NGS panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panelKlippel-Feil syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Klippel-Feil syndrome Deletion / Duplication panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panelSPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) Panel
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) that also includes the following genes: HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panelKLIPPEL-FEIL SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME NGS PANEL that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1 PAX1
More info about this panelSPONDYLOCOSTAL DYSOSTOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
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