Create issue ticket

395 Possible Causes for Hypertelorism, Rarely Malignant, Recurrent Respiratory Infections

  • 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.[] The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[] respiratory infections (obstructive airway diseases) X Heart disease- enlarged heart valves X 33. 33 Picture showing: skeletal abnormalities left (scoliosis of spine with[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[] Leukemia, thyroid diseases, autoimmune disorders, epilepsy, intestinal obstruction, and increased susceptibility to infections (including recurrent respiratory infections)[]

  • 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[] […] disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hand contractures-genital anomalies syndrome Intellectual disability-short stature-hypertelorism[] Coexistence of (Partial) Immune Defects and Risk of Recurrent Respiratory Infections. Clin Chem 2007 ; 53 : 124 -130.[]

  • Cystic Fibrosis

    Osteonecrosis of the jaw has been associated with high‐dose intravenous bisphosphonate therapy in patients with malignancy ( Pendrys 2008 ).[] We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and[] respiratory infections.[]

  • Saethre-Chotzen Syndrome

    This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related[] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[] An 11-month-old male infant with Saethre-Chotzen syndrome and recurrent respiratory infections is described.[]

  • Scimitar Syndrome

    Malignant degeneration of LPD to a leiomyosarcoma has been reported but is rare.[] Rarely, the disease may manifest with a small shunt, a cardiac murmur, and recurrent respiratory infections in children and adults.[] A two-year-old girl was referred for workup after recurrent respiratory tract infections.[]

  • Craniorhiny

    However, pleural metastases of soft tissue sarcoma that constitute less than 1% of adult solid malignancy are extremely rare.[] The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum.[] […] tract infection Alopecia Recurrent respiratory infections Optic atrophy Mixed hearing impairment Small face Acrania Tracheal atresia Dolichocephaly Neurological speech impairment[]

  • Tracheobronchomegaly

    Infection, hemorrhage, and, in rare cases, malignancy can occur. Respiratory distress may result in a stridor or wheeze.[] […] syndrome Craniofacial dysostosis with diaphyseal hyperplasia Cervical hypertrichosis peripheral neuropathy Neuronal ceroid lipofuscinosis 3 Osteogenesis imperfecta type I Hypertelorism[] A 4-year-old girl suffered from dyspnea, recurrent respiratory infections and joint pain.[]

  • Sotos Syndrome

    Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas.[] […] overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism[] Recurrent episodes of lower respiratory tract infections (LRTIs) are a rare complication of muscular hypotonia in patients with Sotos syndrome.[]

  • Acrocallosal Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[] […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[] Respiratory complications could occur and upper respiratory tract infections and sinopulmonary disease are common.[]

Similar symptoms