CYP26B1 gene related symptoms and diseases

All the information presented here about the CYP26B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYP26B1 gene

Symptoms // Phenotype % Cases
Abnormality of the skeletal system Very Common - Between 80% and 100% cases
Brachycephaly Very Common - Between 80% and 100% cases
Craniosynostosis Very Common - Between 80% and 100% cases
Arachnodactyly Very Common - Between 80% and 100% cases
Encephalocele Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CYP26B1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Limited elbow extension
  • Occipital encephalocele
  • Oligodactyly
  • Calvarial skull defect
  • Humeroradial synostosis
  • Multiple skeletal anomalies
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Rare diseases associated to CYP26B1 gene

Here you will find a list of rare diseases related to the CYP26B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME


Description

Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

Most common symptoms of LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

  • Abnormality of the skeletal system
  • Brachycephaly
  • Craniosynostosis
  • Arachnodactyly
  • Encephalocele


More info about LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for CYP26B1 gene

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

CYP26B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP26B1 gene.

More info about this panel


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