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  2. Genes
  3. EDN1

EDN1 gene related symptoms and diseases

All the information presented here about the EDN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to EDN1 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Anterior open-bite malocclusion Very Common - Between 80% and 100% cases
Glossoptosis Very Common - Between 80% and 100% cases
Ankylosis Very Common - Between 80% and 100% cases
Obstructive sleep apnea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EDN1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Microglossia
  • Stenosis of the external auditory canal
  • Impaired mastication
  • Hamartoma of tongue
  • Snoring
  • Difficulty in tongue movements
  • Speech articulation difficulties
  • Overfolding of the superior helices

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EDN1 gene

Here you will find a list of rare diseases related to the EDN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AURICULOCONDYLAR SYNDROME

Alternate names

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome, question mark ears syndrome

Description

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

Most common symptoms of AURICULOCONDYLAR SYNDROME

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


More info about AURICULOCONDYLAR SYNDROME

SOURCES: ORPHANET OMIM



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