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234 Possible Causes for Dysmorphic Face, Recurrent Otitis Media, Recurrent Respiratory Infections

  • Mucopolysaccharidosis

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

  • Mucopolysaccharidosis 6

    Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com] The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.[disorders.eyes.arizona.edu] [rarediseases.org] Recurrent Otitis Media We found ear, nose and throat manifestations in all types of MPS; in particular, recurrent otitis media was present in 30% of cases[symptoma.com]

  • Mucopolysaccharidosis 2

    Both the children had a history of recurrent respiratory infections and intermittent joint pain since early childhood.[mjdrdypu.org] 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[symptoma.com] Factors such as recurrent respiratory infections, enlarged tongue and hypertrophic tonsils contributed to this (Table 1).[actamedicaphilippina.com.ph]

  • Down Syndrome

    Leukemia, thyroid diseases, autoimmune disorders, epilepsy, intestinal obstruction, and increased susceptibility to infections (including recurrent respiratory infections)[emedicine.com]

  • Primary Immune Deficiency Disorder

    Coexistence of (Partial) Immune Defects and Risk of Recurrent Respiratory Infections. Clin Chem 2007 ; 53 : 124 -130.[clinchem.aaccjnls.org] […] hypoplasia syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome[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]

  • Achondroplasia

    Only one had referred recurrent respiratory infections.[ncbi.nlm.nih.gov] Recurrent otitis media is common due to poor drainage of the Eustachian tubes from underdevelopment of the mid-face.[symptoma.com] Recurrent ear infections may cause hearing loss.[healthhype.com]

  • Mucopolysaccharidosis 1

    Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com] 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] […] ear and respiratory infections and or corneal clouding.[invitae.com]

  • Alpha-Mannosidosis

    This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation[genome.jp] […] infections, especially upper airway infections, pulmonary infections and acute/serous otitis media infections.[en.wikipedia.org] Poorly functioning white blood cells results in immune deficiency, and recurrent respiratory and inner ear infections are common, particularly within the first year.[io.nihr.ac.uk]

  • Kniest Dysplasia

    There have been recurrent upper and lower respiratory infections and persistent mild stridor.[jmg.bmj.com] Both have dysmorphic faces, while myopia and cleft palate may be present.[raredisorders.imedpub.com] Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[symptoma.com]

  • Mohr Syndrome

    Frequent fever, tachypnea and recurrent respiratory infections were observed in later days.[ijcasereportsandimages.com] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] otitis media, usually associated with cleft palate, has been reported End stage renal disease (ESRD) has been reported in affected girls and women ranging in age from 11[en.wikibooks.org]

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