FLNB-AS1 gene related symptoms and diseases

All the information presented here about the FLNB-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FLNB-AS1 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Carpal synostosis Very Common - Between 80% and 100% cases
Abnormal vertebral morphology Very Common - Between 80% and 100% cases
Preauricular skin tag Very Common - Between 80% and 100% cases
Abnormality of pelvic girdle bone morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FLNB-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Epiphyseal dysplasia
  • Mesomelia
  • Restrictive ventilatory defect
  • Mixed hearing impairment
  • Tarsal synostosis
  • Disproportionate short stature
  • Hypoplasia of the odontoid process
  • Disproportionate short-trunk short stature

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FLNB-AS1 gene

Here you will find a list of rare diseases related to the FLNB-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPONDYLOCARPOTARSAL SYNOSTOSIS


Alternate names

SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital, synspondylism, vertebral fusion with carpal coalition, scoliosis, congenital, with unilateral unsegmented bar, spondylocarpotarsal syndrome

Description

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

Most common symptoms of SPONDYLOCARPOTARSAL SYNOSTOSIS

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


More info about SPONDYLOCARPOTARSAL SYNOSTOSIS

SOURCES: OMIM MESH ORPHANET




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