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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.[] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[]

  • Down Syndrome

    Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[] 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.[] If severe or contributing to cardiorespiratory problems or failure to thrive, refer for subspecialty intervention. Stridor, wheezing, or noisy breathing.[]

  • 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[] spots Males with Down syndrome are generally infertile .[] Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek[]

  • 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.[] spots (in eyes) Clinical: Trisomy 21- Down Syndrome cont.[] Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome.[]

  • 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[] spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[] The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease, failure to thrive, infection-associated encephalopathy[]

  • Blue Diaper Syndrome

    Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems.[] Will see epicanthal folds, simian crease , brushfield spots in eyes.[] […] 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[]

  • 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.[] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[] Related symptoms: Growth delay Failure to thrive Muscular hypotonia Feeding difficulties Brachydactyly SOURCES: ORPHANET More info about INFANTILE SYSTEMIC HYALINOSIS High[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

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

  • 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[] Will see epicanthal folds, simian crease, brushfield spots in eyes.[] […] 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[]

  • Kaufman Oculocerebrofacial Syndrome

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

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