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102 Possible Causes for Recurrent Respiratory Infections, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[ncbi.nlm.nih.gov] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Often, the first symptoms of Hunter syndrome may include inguinal or umbilical hernias, ear infections, runny noses and frequent upper respiratory infections.[onepath.com] Both the children had a history of recurrent respiratory infections and intermittent joint pain since early childhood.[mjdrdypu.org] […] and inguinal hernia, diarrhea, developmental delay, and intellectual disability.[symptoma.com]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] 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] […] ear and respiratory infections and or corneal clouding.[invitae.com]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] Leukemia, thyroid diseases, autoimmune disorders, epilepsy, intestinal obstruction, and increased susceptibility to infections (including recurrent respiratory infections)[emedicine.com] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Chromosome 18p Deletion Syndrome

    hernia (7%) Coloboma (4%) Eczema (4%) Inguinal hernia (4%) Large protruding forehead (4%) Dysplastic teeth (4%) Delayed fontanel closure (4%) Chorea (3%) Low posterior hairline[en.wikibooks.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] The patient suffered from recurrent upper respiratory tract and genitourinary infections, which were controlled by the use of prophylactic antibiotics.[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] In addition, she had recurrent pulmonary infections, apneic spells, and severe developmental delay.[ncbi.nlm.nih.gov]

  • Hypertelorism

    The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia.[ncbi.nlm.nih.gov] Cri du chat5p deletionSmall head and jaw; wide eyes; skin tags in front of eyes; round face with full cheeks; hypertelorism; epicanthal folds; down-slanting palpebral fissues[dontforgetthebubbles.com] These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections.[ncbi.nlm.nih.gov]

  • Omphalocele

    The remaining 2 patients are awaiting surgery for persisting umbilical hernia repair and umbilicoplasty, respectively.[ncbi.nlm.nih.gov] Later in life these patients face additional problems including a higher incidence of Wilms tumor, hepatoblastoma and adrenocortical neoplasms.[clinicalpainadvisor.com] Rarely, affected individuals who have breathing problems in infancy experience recurrent lung infections or asthma later in life.[ghr.nlm.nih.gov]

  • Marshall-Smith Syndrome

    "Additional features include hirsuitism and umbilical hernia. Hearing loss can sometimes occur.[enotes.com] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] respiratory infections or characteristic facies.[orpha.net]

  • Gastroschisis

    Patient demographics, gastroschisis closure method and umbilical hernia occurrence were recorded.[ncbi.nlm.nih.gov] Following round 3 of the Delphi process, 40 experts will be invited to attend a face-to-face consensus meeting.[ncbi.nlm.nih.gov] Rarely, affected individuals who have breathing problems in infancy experience recurrent lung infections or asthma later in life.[web.archive.org]

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