Possible Causes for Dysmorphic Face + Recurrent Otitis Media + Recurrent Respiratory Infections in USA

  • Mucopolysaccharidosis 2
    Otitis Media Recurrent Upper Respiratory Infections Recurrent Otitis Media Recurrent Respiratory Infections Dysmorphic Face Round Face

    otitis media Broad chest Ivory-colored papular skin lesions on the upper back and sides of the upper arms Protuberant abdomen Diarrhea Short stature Skeletal deformities […] include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal degeneration Hearing loss Recurrent[1]

  • Down Syndrome
    Chronic Serous Otitis Media Chronic Otitis Media Recurrent Otitis Media Recurrent Respiratory Infections Dysmorphic Face

    Down syndrome is the most common and best known chromosomal disorder in humans. It is typically associated with mental retardation, developmental delays and a particular set of facial characteristics. The three genetic variations that can cause Down syndrome include: Trisomy 21, mosaic Down syndrome and…[2]

  • Maroteaux Lamy Syndrome
    Coarse Face Recurrent Otitis Media Recurrent Respiratory Infections Dysmorphic Face

    Maroteaux Lamy syndrome or mucopolysaccharidosis type VI is a rare autosomal recessive disorder characterized by the accumulation of mucopolysaccharides in connective tissues as a result of the reduced or absent activity of the lysosomal enzyme arylsulfatase B (ASB). This is a progressive disorder that affects…[3]

  • Mucopolysaccharidosis 1
    Coarse Face Recurrent Upper Respiratory Infections Recurrent Infection Recurrent Otitis Media Dysmorphic Face Round Face Lower Respiratory Tract Infection

    Mucopolysaccharidosis 1 is a rare lysosomal storage disease provoked by mutations of the gene encoding for alpha-L-iduronidase, an enzyme required for the breakdown of determined glycosaminoglycans. Depending on the severity of the disease, patients may be diagnosed with Scheie syndrome, Hurler Scheie syndrome…[4]

  • Achondroplasia
    Otitis Media Recurrent Otitis Media Dysmorphic Face

    Recurrent otitis media is common due to poor drainage of the Eustachian tubes from underdevelopment of the mid-face. […] otitis media with subsequent hearing loss Hydrocephalus Spinal deformities: kyphosis, lordosis, scoliosis Developmental delays Obesity Spinal stenosis Genu varum Cardiovascular […] otitis media with subsequent hearing loss Spinal deformities: kyphosis, lordosis, scoliosis Developmental delays Obesity Genu varum (bowing of lower legs) Cardiovascular[5]

  • Turner Syndrome
    Recurrent Otitis Media Dysmorphic Face

    Turner syndrome, first described in 1938 by Henry Turner, is as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema…[6]

  • Primary Ciliary Dyskinesia
    Recurrent Infection Recurrent Otitis Media Recurrent Respiratory Infections

    Primary ciliary dyskinesia is a genetic disorder in which impaired development and function of cilia leads to recurrent respiratory infections, hearing deficits and congenital[7]

  • Primary Immune Deficiency Disorder
    Recurrent Upper Respiratory Infections Recurrent Infection Recurrent Otitis Media Recurrent Respiratory Infections

    Patients diagnosed with primary immune deficiency disorder may show any one of several gene defects that cause the immune system to fail. Contrary to secondary immunodeficiencies, environmental factors triggering symptom onset cannot be identified. Many PIDD patients have a family history of immunodeficiency or…[8]

  • Congenital Acquired Immune Deficiency Syndrome
    Otitis Media Recurrent Upper Respiratory Infections Recurrent Infection Recurrent Otitis Media

    Congenital acquired immune deficiency syndrome occurs due to mother-to-child transmission of HIV in utero, during delivery or breast-feeding. Depending on various factors, around 5-50% of children born to HIV+ mothers are infected. The diagnosis is made by a combination of clinical and immunological criteria, while…[9]

  • Hypogammaglobulinemia
    Otitis Media Recurrent Upper Respiratory Infections Recurrent Infection Recurrent Otitis Media Lower Respiratory Tract Infection

    Hypogammaglobulinemia is a term describing insufficient levels of gamma globulins, which may occur from malignant, genetic or iatrogenic diseases. Recurrent infections of the respiratory tract and the ear are the main clinical manifestations and infections are one of the most important complications. The diagnosis is…[10]

Further symptoms

Similar symptoms

References

  1. Mucopolysaccharidosis 2, Symptoma
  2. Down Syndrome, Symptoma
  3. Maroteaux Lamy Syndrome, Symptoma
  4. Mucopolysaccharidosis 1, Symptoma
  5. Achondroplasia, Symptoma
  6. Turner Syndrome, Symptoma
  7. Primary Ciliary Dyskinesia, Symptoma
  8. Primary Immune Deficiency Disorder, Symptoma
  9. Congenital Acquired Immune Deficiency Syndrome, Symptoma
  10. Hypogammaglobulinemia, Symptoma