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3,325 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Poor Feeding, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research.[ncbi.nlm.nih.gov] These feeding behaviors are an important addition to the knowledge of the highly prevalent feeding difficulties in this genetic disorder.[ncbi.nlm.nih.gov] Individuals who were completely tube fed (n   21) had significantly more feeding difficulties than individuals who were either partially (n   26) or completely orally fed[ncbi.nlm.nih.gov]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Poor Feeding
  • Constipation

    Lab Studies: Laboratory evaluation does not play a large role in the initial assessment of the patient. Check thyroid-stimulating hormone levels to rule out hypothyroidism in patients refractory to dietary management. Determine serum electrolyte profile, including potassium, calcium, glucose, and creatinine, in patients[…][web.archive.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Esophagitis

    feeding, failure to gain weight, and chest or abdominal pain.[masseyeandear.org] Children can have feeding difficulties like difficulty advancing to age appropriate foods, coughing when they are trying to swallow solids or liquids.[childrensnational.org] The eosinophils cause inflammation in the oesophagus, causing the following symptoms: difficulty feeding, poor weight gain, decreased appetite, chest/abdominal pain, reflux-like[hra.nhs.uk]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Patent Ductus Arteriosus

    Symptoms may include failure to thrive, poor feeding, tachycardia, and tachypnea. A continuous murmur at the upper left sternal border is common.[merckmanuals.com] feeding Weight loss Failure to thrive Diagnosis and Treatment If a PDA is suspected, an echocardiogram of the heart will typically be performed.[preemies.about.com] Infants and children with a small PDA are generally asymptomatic; infants with a large PDA present with signs of heart failure (eg, failure to thrive, poor feeding, tachypnea[msdmanuals.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Hydrocephalus

    Infants with hydrocephalus presents with complaints such as poor feeding, vomiting, reduced activity and irritability.[symptoma.com] feeding habits Projectile vomiting Seizures Sleepiness or lack of alertness Very noticeable scalp veins In older children, headaches and visual changes may be seen.[chp.edu] Symptoms may include: Vomiting Poor feeding Listlessness Irritability Constant downward gaze of the eyes Occasional seizures In older children and adults, the bones of the[medtronic.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Adrenogenital Syndrome

    Poor feeding or vomiting Dehydration Electrolyte changes (abnormal levels of sodium and potassium in the blood) Abnormal heart rhythm Girls with the milder form will usually[nlm.nih.gov] Lethargy, feeding difficulties, vomiting, and weight loss are common symptoms. Further examinations may reveal dehydration, hyponatremia, and hyperkalemia.[symptoma.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Congenital Laryngomalacia

    Other symptoms may include: difficulty feeding poor weight gain choking while feeding apnea (pauses in breathing) pulling in neck and chest with each breath cyanosis (blue[childrenshospital.org] Other symptoms that can be associated with laryngomalacia include: Feeding difficulties Poor weight gain (failure to thrive) Regurgitation of food (vomiting or spitting up[childrenshospital.vanderbilt.org] This severe form presents as persistent sternal recession, feeding difficulties, and failure to thrive, progressing to apnoeic attacks, cor pulmonale and eventually death.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Isovaleric Acidemia

    This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound[ncbi.nlm.nih.gov] Clinical features of IVA include poor feeding, vomiting, lethargy, developmental delay, metabolic acidosis, and a characteristic "sweaty foot" odor.[ncbi.nlm.nih.gov] The main health problems that people with isovaleric acidemia usually have can include poor feeding, vomiting, seizures, a lack of energy (lethargy), difficulty growing and[thinkgenetic.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Propionic Acidemia

    A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding[ncbi.nlm.nih.gov] Neonatal-onset propionic acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy[ncbi.nlm.nih.gov] Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy.[en.wikipedia.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs

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