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10 Possible Causes for Hyperbilirubinemia, Onset in First Weeks or Months of Life, Small Foot

  • Early Infantile Epileptic Encephalopathy Type 2

    Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth.[orpha.net] (C0117) was delivered at the age of 28 weeks and was diagnosed with hyperbilirubinemia, at the age of one year and one month his DQ indicates moderate ID. (2).[nature.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[emedicine.medscape.com] This clinical approach is based on expert opinion and small, uncontrolled retrospective case series.[care.diabetesjournals.org] […] susceptibility to autism-4 Cryptomicrotia brachydactyly syndrome Disseminated superficial actinic porokeratosis Familial visceral myopathy with external ophthalmoplegia Hyperbilirubinemia[checkrare.com]

  • Volvulus

    The onset occurred in the first week of life in 3 patients, at age 1.5 months in another, and at age 5 months in the last one, although the latter had previously visited the[analesdepediatria.org] CT-scan helped to diagnose a small bowel invagination and decision is made to treat this patient laparoscopically.[websurg.com] Abdominal pain (RUQ, radiates epigastric), nausea, vomiting, fever, Murphy's sign Clinical (history & physical exam) Imaging (RUQ ultrasound) Labs ( leukocytosis, transamintis, hyperbilirubinemia[en.wikipedia.org]

  • Hepatoerythropoietic Porphyria

    […] of seizures in the first weeks or months of life.[mendelian.co] Abnormal facial shape Depressed nasal bridge Abnormality of the liver Sepsis Skin ulcer Delayed speech and language development Hemolytic anemia Spontaneous abortion Short foot[mendelian.co] , red urine, dark diapers that show a red fluorescence under UV light Phototherapy for hyperbilirubinemia leads to severe skin blistering.[merckmanuals.com]

  • Encephalopathy

    Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth.[orpha.net] Symptoms include: muscle weakness, leading to unsteadiness and difficulty performing small movements, such as buttoning a shirt. muscle wasting muscle twitching and cramps[medicalnewstoday.com] Patients with cirrhosis who also have older age, hypoalbuminemia, hyperbilirubinemia, severe ascites, Child Pugh Class C, diabetes, malnutrition, and H.[clinicaladvisor.com]

  • Pneumatosis Vaginalis

    […] two years of life, peak incidence at 6 weeks of age Seasonal pattern - winter and early spring months Clinical Picture Symptoms • Sudden onset of respiratory difficulty •[flashcardmachine.com] Oligohydramnios sequence Flattened facial features and deformed right foot (talipes equinovarus) 5. Thalidomide Babies 6. Fetal macrosomia in Gestational Diabetes 7.[slideshare.net] Hypertrophic Cardiomyopathy, Hyperbilirubinemia, & Polycythemia 6.[cram.com]

  • Glycogen Storage Disease

    Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com] […] pelvic tilt; Forward trunk lean Relatively spared muscles Hip flexors Spinal extensors Muscle pathology: Myopathy, vacuolar Neuropathy Sural nerve: Axon loss NCV: CMAPs small[neuromuscular.wustl.edu] Increased reticulocytes, hyperbilirubinemia, jaundice, gallstones, and gout may help provide diagnostic clues. 6.2 Genetics Phosphofructokinase is a glycolytic enzyme that[doi.org]

  • Lethal Neonatal Spasticity - Epileptic Encephalopathy

    7 years Absence with rhythmic jerks Poorer prognosis, resistant to therapy, 60% develop other seizure types EEG 3 Hz spike-and-wave Early myoclonic epilepsy Onset first month[emilytam.com] In infants and young children, infarction often occurs in the diaphyses of small tubular bones in the hands and feet.[quizlet.com] Holoprosencephaly 9 Homocystinuria Hurler Syndrome Hutchinson-Gilford Progeria Syndrome, Restrictive Dermatopathy, Lethal Hydatidiform Mole, Recurrent Hydrocephalus, X-linked Hyperbilirubinemia[sequencing.com]

  • Digitorenocerebral Syndrome

    […] or months of life.[genecards.org] […] coloboma Premature chromatid separation Hypoplasia of the cochlea Respiratory distress Kyphoscoliosis Organic aciduria Delusions Limb muscle weakness Split hand Cyanosis Foot[mendelian.co] […] hydronephrosis, hydrops, hydroxykynureninuria, hydroxylysinuria, hydroxymethylglutaricaciduria, hymenolepiasis, hyper, hyper-igd, hyperactivity, hyperalphalipoproteinemia, hyperbilirubinemia[rapsodyonline.eurordis.org]

  • Perrault Syndrome 3

    : first days or weeks of life Hypotonia Respiratory and feeding difficulties Hyperlactatemia One patient died of severe hypotonia at 39 days All other improved spontaneously[slideshare.net] […] cystic eyelids, hypodontia, and hypotrichosis) Succedaneous teeth, agenesis of Tooth agenesis, selective, 4 (STHAG4) (Lateral incisors, pegged or missing) WNT10B Split-hand/foot[uniklinik-freiburg.de] Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet Suppl. 1987. 3:211-20. [Medline].[emedicine.medscape.com]

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