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57 Possible Causes for Brushfield Spot, Nystagmus, Short Broad Feet

  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com] She had low set ears, broad hands, short fingers, and short broad feet [Figure 3] a-c. Figure 3: The features of Michels syndrome.[ijo.in]

  • Down Syndrome

    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] Nystagmus was related to myopia and esotropia, and to heart disease and heart operations.[dx.doi.org] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info]

  • Kaufman Oculocerebrofacial Syndrome

    spots; Cloudy cornea; Cataracts; Pigmentary retinopathy; Optic nerve dysplasia Mouth: Cleft palate; Mandible:Micrognathia Ears: Low set; Helix abnormal Limbs: Cubitus valgus[findzebra.com] . * long thin hands & feet * eye abnormalities including shaky or wiggly eye movement (nystagmus) * unusually looking long narrow face * small head; those some persons have[signssymptoms.org] 80%-99% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Brachycephaly Short and broad skull 0000248 Flat occiput 0005469[rarediseases.info.nih.gov]

  • Sorsby Syndrome

    spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.aao.org] […] of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus[monarchinitiative.org] The distal two phalanges sometimes short, absent, or duplicated and the nails can be dysplastic or absent. Syndactyly of several digits in both hands and feet is common.[disorders.eyes.arizona.edu]

  • Acrootoocular Syndrome

    spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.aao.org]

  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[diapedia.org] […] genetic testing available SCA8 (autosomal dominant type 8) 13q21 with CTG repeats; noncoding; 3‘ untranslated region of transcribed RNA; KLHL1AS Gait ataxia, dysarthria, nystagmus[accesspharmacy.mhmedical.com] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org]

  • Partial Monosomy 18q

    Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] […] characterized by additional eye (ocular) defects, such as vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); involuntary, rhythmic, rapid eye movements (nystagmus[rarediseases.org] Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.[cags.org.ae]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    Syndrome (OMIM Number) Ophthalmologic Abnormality Aicardi–Goutières syndrome (225750) Visual inattention, abnormal eye movements Allan–Herndon–Dudley syndrome (300523) Rotary nystagmus[clinicalgate.com] Short limbs with acrodysostosis. Epiphyses are cone shaped. Short, broad hands, feet, fingers, and toes. Short metatarsals. GI/GU : Rare renal anomalies. Cryptorchidism.[aneskey.com] […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[chr7.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity Clinical Characteristics Ocular Features: Patients have deep-set eyes with nystagmus, reduced vision, and[disorders.eyes.arizona.edu] […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[chr7.org] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Craniosynostosis Type 3

    Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] Other typical ocular findings can be hypertelorism downslanting palpebral fissures, microphthalmia, nystagmus and convergent strabismus.[bredagenetics.com] They have black to dark brown skin, broad short noses, wooly black hair, and dark irises. Adult males are less than 5 feet tall and females are shorter still.[internetlooks.com]

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