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233 Possible Causes for Hypertelorism, Rarely Malignant, Recurrent Otitis Media

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[ncbi.nlm.nih.gov] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[ncbi.nlm.nih.gov] otitis media Recurrent middle ear infection 0000403 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Secondary amenorrhea Previous menstrual[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[ncbi.nlm.nih.gov] In our case, MPS IIIB was diagnosed at an early age because recurrent wheezing and otitis media in conjunction with hepatomegaly were recognised as more than trivial findings[ncbi.nlm.nih.gov] Typical clinical findings at various ages include: 0 - 6 months Chronic rhinitis Recurrent otitis media or "glue ear" with thick cerumen Umbilical or inguinal hernia Above[medicalhomeportal.org]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[ncbi.nlm.nih.gov] otitis media Recurrent middle ear infection 0000403 Percent of people who have these symptoms is not available through HPO Abdominal distention Abdominal bloating Abdominal[rarediseases.info.nih.gov]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] Usually resolves by 1-2years old Speech impairment, possibly due to hearing impairment caused by recurrent otitis media.[pedclerk.bsd.uchicago.edu]

  • Primary Immune Deficiency Disorder

    […] diseases which may be accompanied by autoimmune disease, allergy, incidence of malignancy, GI abnormalities Incidence IgA deficiency 1:500, agammagobulinemia 1:50,000, severe[medical-dictionary.thefreedictionary.com] […] disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hand contractures-genital anomalies syndrome Intellectual disability-short stature-hypertelorism[orpha.net] Affected children suffer from recurrent sinusitis, otitis media, upper respiratory infection and pneumonia, but also from developmental defects and failure to thrive.[symptoma.com]

  • Hypogammaglobulinemia

    Most patients with hypogammaglobulinemia present with a history of recurrent infections, failure to thrive, autoimmune disease, and more rarely with malignancies (especially[emedicine.medscape.com] Instability-Facial Anomalies Syndrome 3 Clinical Characteristics Ocular Features: Patients have been described as having variable oculofacial features including epicanthal folds, hypertelorism[disorders.eyes.arizona.edu] Case description: A 41-year-old female with TS, hypothyroidism, and recurrent otitis media as a child presents with severe vitamin deficiencies including: iron, vitamin B12[eposters.net]

  • Spondylocarpotarsal Synostosis

    Malignancy is defined by presence of metastases that arise in sites devoid of chromaffin tissue such as bone. Malignant PGLs are extremely rare. Case presentation.[ccmbm.com] […] recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism[medical-dictionary.thefreedictionary.com] We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent[ncbi.nlm.nih.gov]

  • Common Variable Immunodeficiency

    Common variable immunodeficiency is a rare disorder of immunity associated with a myriad of clinical manifestations including recurrent infections, autoimmunity, and malignancy[ncbi.nlm.nih.gov] Classical findings of some specific syndromes should be carefully noted including DiGeorge syndrome (micrognathia, hypertelorism, low-set ears, shortened upper lip philtrum[hawaii.edu] Antibody immunodeficiencies are marked by hypo- or dysgammaglobulinemia, recurrent bacterial otitis media, and sinopulmonary infections.[medical-dictionary.thefreedictionary.com]

  • Craniorhiny

    However, pleural metastases of soft tissue sarcoma that constitute less than 1% of adult solid malignancy are extremely rare.[biomedsearch.com] The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum.[unboundmedicine.com] otitis media Recurrent sinusitis Epiphyseal stippling Emphysema Progressive hearing impairment Dermal atrophy Deep philtrum Nasal speech Leukodystrophy Sinusitis Short phalanx[mendelian.co]

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