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104 Possible Causes for Airway Obstruction, 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] Although upper airway obstruction was noted, it resolved with simple airway maneuvers without further airway intervention. 2017 John Wiley & Sons Ltd.[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] Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[symptoma.com] Death from upper airway obstruction or heart failure occurs by age 15.[secure.ssa.gov]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] 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] 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]

  • 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] Severe airway obstruction due to congenital anomalies must be excluded in any dysmorphic child presenting with respiratory distress at birth.[ncbi.nlm.nih.gov]

  • Beckwith-Wiedemann Syndrome

    hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[ncbi.nlm.nih.gov] They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[ncbi.nlm.nih.gov] Further information as to the site(s) of airway obstruction in patients with BWS will help guide treatment strategies.[ncbi.nlm.nih.gov]

  • Down Syndrome

    KEYWORDS: Adenotonsillectomy; Congenital Heart Disease; Gastroesophageal reflux; Polysomnography; Recurrent wheeze; Upper airway obstruction[ncbi.nlm.nih.gov] 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] 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]

  • Kniest Dysplasia

    Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org] obstruction.[ncbi.nlm.nih.gov]

  • Pierre Robin Syndrome

    Physical examination at birth showed micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia[molecularcytogenetics.biomedcentral.com] Sixteen cases required active treatment for episodes of airway obstruction associated with cyanosis.[ncbi.nlm.nih.gov] The severity of airway obstruction varies in infants with Pierre-Robin syndrome (PRS).[ncbi.nlm.nih.gov]

  • Larynx Atresia

    Epigastric hernias Hiatal hernias Inguinal hernias& hydroceles Umbilical hernia Neck Disorders Parathyroid glands Thyroglossyl duct remnants Thyroid disease Prenatal Conditions[phoenixchildrens.org] These patients' faces are round with hypertelorism and a broad nasal root. Cleft lip/palate is observed occasionally (see the image below).[emedicine.medscape.com] Congenital high airway obstruction syndrome and airway reconstruction: an evolving paradigm.[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] It is well known that the obstruction of the upper airway that appears in OSAHS is determined by anatomical variations of the nose and pharynx, and even of the larynx, or[medichub.ro]

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