Possible Causes for Low Set Ears in USA

  • Rubinstein-Taybi Syndrome
    Low Set Ears

    Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common […] Various facial features, such as the underdeveloped jaw, beaked nose, low-set ears, and long eyelashes, are accompanied with broadening and angulation of thumbs, big toes,[1]

  • Down Syndrome
    Low Set Ears

    syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set […] ears, small nose, depressed nasal bridge, protruding tongue, high-arched palate, dental abnormalities, and a short and broad neck.[2]

  • Turner Syndrome
    Low Set Ears

    Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.[3]

  • Velocardiofacial Syndrome
    Low Set Ears

    Velocardiofacial syndrome (VCFS), also known as digeorge syndrome or 22q11.2 syndrome, is a genetic disorder characterized by malformations in the pharyngeal arch derivatives including the thymus, parathyroid glands, and the conotruncal part of the heart.  VCFS presents with a myriad of anomalies and clinical…[4]

  • Hallermann Syndrome
    Low Set Ears

    Hallermann syndrome is a congenital disease characterized mainly by facial and skull abnormalities. A short head, beak-like nose, malformed teeth, and cataracts are the distinctive symptoms. Intellectual disability is rare in this medical ailment. Hallermann syndrome (HS) or Hallermann-Streiff syndrome (also called…[5]

  • Trisomy 18
    Low Set Ears

    Trisomy 18 (Edwards syndrome) is a chromosomal abnormality. It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations. In utero, the patients present with heart defects, central nervous system…[6]

  • Homocystinuria
    Low Set Ears

    Homocystinuria is an autosomal recessive metabolic disease characterized by elevated levels of homocysteine. The most common genetic mutation involved in the disease targets cystathionine beta-synthase, an enzyme that catalyzes the conversion of methionine into cysteine. Patients with homocystinuria can present…[7]

  • CHARGE Syndrome
    Low Set Ears

    CHARGE syndrome is characterized by the association of coloboma, heart anomalies, choanal atresia, retardation of growth and development, genital and ear anomalies. Patients with CHARGE syndrome are usually identified in infancy or early childhood when multiple congenital anomalies are found. Many of these defects…[8]

  • Mandibulofacial Dysostosis
    Low Set Ears

    Mandibulofacial dysostosis is a genetic condition which features multiple phenotypical abnormalities in facial characteristics derived from the first pharyngeal arch. The main malformations include hypoplastic zygomas, an underdeveloped jaw, abnormally large mouth and a downwards-tilting rima palpebrarum, accompanied by…[9]

  • Smith-Magenis Syndrome
    Low Set Ears

    Smith-Magenis syndrome is a developmental disorder which affects several organs and systems of the body. As previously stated, SMS signs might be very variable, especially in later life stages. Thus, each case might show a different clinical presentation and family members of affected children should discuss the…[10]

Further symptoms

References

  1. Rubinstein-Taybi Syndrome, Symptoma
  2. Down Syndrome, Symptoma
  3. Wikipedia: Turner syndrome, CC-BY-SA-3.0
  4. Velocardiofacial Syndrome, Symptoma
  5. Hallermann Syndrome, Symptoma
  6. Trisomy 18, Symptoma
  7. Homocystinuria, Symptoma
  8. CHARGE Syndrome, Symptoma
  9. Mandibulofacial Dysostosis, Symptoma
  10. Smith-Magenis Syndrome, Symptoma