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198 Possible Causes for Brushfield Spot, Failure to Thrive

  • Zellweger Syndrome

    A 7-month-old infant with failure to thrive and malnutrition developed a corneal ulcer. Fortified antibiotic eye drops were administered without improvement.[ncbi.nlm.nih.gov] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

  • Down Syndrome

    Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com] Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com] If severe or contributing to cardiorespiratory problems or failure to thrive, refer for subspecialty intervention. Stridor, wheezing, or noisy breathing.[doi.org]

  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] spots Males with Down syndrome are generally infertile .[pathophys.org] Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek[ncbi.nlm.nih.gov]

  • Emanuel Syndrome

    The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.[checkorphan.org] spots (in eyes) Clinical: Trisomy 21- Down Syndrome cont.[studyblue.com] Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome.[ncbi.nlm.nih.gov]

  • Alpers Syndrome

    Mangalat, N, Tatevian, N, Bhattacharjee, MB & Rhoads, JM 2012, ' Alpers syndrome: An unusual etiology of failure to thrive ', Ultrastructural Pathology , vol. 36, no. 4, pp[uthealth.influuent.utsystem.edu] spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.aao.org] The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease, failure to thrive, infection-associated encephalopathy[ninds.nih.gov]

  • Blue Diaper Syndrome

    Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems.[malacards.org] Will see epicanthal folds, simian crease , brushfield spots in eyes.[kumc.edu] […] of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys ( nephrocalcinosis ) leading to impaired kidney function and possible kidney failure[rarediseases.info.nih.gov]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.de] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[flashcardmachine.com] Related symptoms: Growth delay Failure to thrive Muscular hypotonia Feeding difficulties Brachydactyly SOURCES: ORPHANET More info about INFANTILE SYSTEMIC HYALINOSIS High[mendelian.co]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    He had persistent failure to thrive due to intermittent respiratory tract infection.[indianjotol.org] Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[merckmanuals.com] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Synopsis hepatomegaly failure to thrive renal dysfunction recurrent infections Short stature Delayed puberty ’Doll-like’ facies Lipemia retinalis Hypertension Protuberant[humpath.com] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] […] to thrive In neuromuscular forms, hypotonia and muscle atrophy Treatment: None known For cirrhosis, liver transplantation, which treats the primary disease as well GSD V[msdmanuals.com]

  • Kaufman Oculocerebrofacial Syndrome

    thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability.[ncbi.nlm.nih.gov] spots; Cloudy cornea; Cataracts; Pigmentary retinopathy; Optic nerve dysplasia Mouth: Cleft palate; Mandible:Micrognathia Ears: Low set; Helix abnormal Limbs: Cubitus valgus[findzebra.com] […] to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Long face - Macrostomia / big mouth - Microcornea - Muscle weakness / flaccidity[csbg.cnb.csic.es]

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