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44 Possible Causes for Mild Upslanting Palpebral Fissure

  • Kaufman Oculocerebrofacial Syndrome

    Definition A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe[uniprot.org] UniProtKB/Swiss-Prot : 75 Kaufman oculocerebrofacial syndrome: A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus,[malacards.org]

  • Autosomal Dominant Prognathism

    fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia[findzebra.com] Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral[findzebra.com]

  • Brachydactyly

    […] blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia[ncbi.nlm.nih.gov] Mild intellectual disability is usually a feature as are a high forehead, deep-set eyes, short and upslanting palpebral fissures, and a short nose with anteverted nares.[disorders.eyes.arizona.edu] […] and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild[ncbi.nlm.nih.gov]

  • Foveal Hypoplasia - Presenile Cataract Syndrome

    Behavioral abnormality Hip dysplasia Feeding difficulties Abnormality of the skeletal system Delayed skeletal maturation Upslanted palpebral fissure Hypertrophic cardiomyopathy[mendelian.co] […] skeletal musculature Thick cerebral cortex Abnormal aldolase level Depressed nasal bridge Brachydactyly Edema Hypertonia Syndactyly Osteoporosis Intellectual disability, mild[mendelian.co]

  • Frontonasal Dysplasia

    Downslanting of the palpebral fissures was present in 35% ( n 8), with variable severity, whereas an upslant of the palpebral fissures was present in 48% ( n 11), although[nature.com] […] usually only mild.[nature.com]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] Summary Clinical description Variable and often mild intellectual disability, almost constant muscular hypotonia and joint laxity are often associated with morphological signs[orpha.net]

  • Nivelon-Nivelon-Mabille Syndrome

    fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia[orpha.net] Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral[orpha.net]

  • Muscular Fasciculation

    palpebral fissures Fragile X Genetic defect: expansion of trinucleotide repeat (CGG) on X chromosome Hypotonia is mild and kids are usually diagnosed after failure to meet[pedclerk.bsd.uchicago.edu] […] congenital heart defects Dysmorphic features present in neonates: flat facial profile and nasal bridge, short neck with excess uncial folds, single transverse palmer crease, upslanting[pedclerk.bsd.uchicago.edu]

  • Congenital Aural Atresia

    ID; walking at 30m; first words at 36m; hyperplastic supraorbital ridges; frontal bossing upslanting palpebral fissures; microtia with squared earlobe; hypoplasia of external[databases.lovd.nl] ID; walking at 24m; first words at 30m; hyperplastic supraorbital ridges; frontal bossing; upslanting palpebral fissures; microtia with squared earlobe; cleft palate; micrognathia[databases.lovd.nl] - 40w; weight 2500 (-2.3) - polyhydramnios;birth height 48cm/-1.7SD; birth OFC 32cm/-2.2SD; Height at 8y 114.5cm/-2.6SD; weight at 8y21kg/-1.6SD; OFC at 8y 46cm/-5.5SD; mild[databases.lovd.nl]

  • Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

    Associated abnormalities vary and may include facial dysmorphism , upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay,[eng.ichacha.net]

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