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698 Possible Causes for Downslanting Palpebral Fissures

  • Cerebro-Facio-Thoracic Dysplasia

    , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[en.wikibooks.org]

  • Autosomal Dominant Spastic Paraplegia Type 8

    Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia.[genecards.org]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    […] keratoderma syndrome (609528) Downslanting palpebral fissures, hypertelorism, hypoplastic optic discs; described in two families Cerebro-oculofacioskeletal syndrome (214150[clinicalgate.com] palpebral fissures Macrocephaly Abnormal facial shape Cerebellar vermis hypoplasia Highly arched eyebrow Biparietal narrowing Occipital encephalocele Molar tooth sign on[mendelian.co] ) Cataracts, blepharophimosis Microphthalmia, deep-set eyes, nystagmus ** CHARGE syndrome (214800) Colobomas, anophthalmia, ptosis, hypertelorism, downslanting palpebral fissures[clinicalgate.com]

  • Autosomal Dominant Mental Retardation 5

    Other common findings include short stature; abnormal head shape and low-set, abnormally shaped ears; downslanting palpebral fissures; a bulbous nasal tip; a thin upper lip[medical-dictionary.thefreedictionary.com] Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional[icd10data.com]

  • Papillomas in Perioral, Nasal and Anal Regions

    palpebral fissures Epicanthal folds Strabismus Ptosis [ EoM Image ] Further information: Morphology of elements Head Macrocephaly [ EoM Image ] Further information: Morphology[mnglabs.com] Extracutaneous findings Neonates have a characteristic facial appearance consisting of a tall forehead, low posterior hairline, hypertelorism, downslanting palpebral fissures[clinicalgate.com] Macroglossia [ EoM Image ] Further information: Morphology of elements Thick lips High-arched palate Eyes Hypertelorism [ EoM Image ] Further information: Morphology of elements Downslanting[mnglabs.com]

  • Dursun Syndrome

    palpebral fissures - dental malocclusion - growth retardation - respiratory disorders during sleep (80 %): especially obstructive and non-obstructive apneas - disorders of[sites.uclouvain.be] […] reflux - cardiac abnormalities (50 %): ASD, VSD, valvular malformations - moderate facial dysmorphism: wide frontal bossing, triangular face in childhood but oval later; downslanting[sites.uclouvain.be]

  • Cerebellar Hypoplasia and Atrophy

    palpebral fissures, related diseases and genetic alterations[mendelian.co] Mendelian Learn more Other signs and symptoms that you may find interesting Hepatomegaly and Abnormal heart morphology, related diseases and genetic alterations Hepatomegaly and Downslanted[mendelian.co]

  • Syndromic Microphthalmia 11

    palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[eyewiki.aao.org] palpebral fissures/AD/FGFR2/#123790 BECKWITH-WIEDEMANN SYNDROME/Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys /AD, sporadic ([eyewiki.org] Other typical ocular findings can be hypertelorism downslanting palpebral fissures, microphthalmia, nystagmus and convergent strabismus.[bredagenetics.com]

  • Autosomal Recessive Dyskeratosis Congenita Type 5

    The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.[mendelian.co] palpebral fissures High palate Depressed nasal bridge Myopia Inguinal hernia Cognitive impairment Micrognathia Patent ductus arteriosus Tonsillitis Hernia Heterogeneous Polyhydramnios[mendelian.co] Hepatosplenomegaly Hypotrichosis Elevated alkaline phosphatase Abdominal distention Amblyopia Ventricular hypertrophy Pain Low posterior hairline Rod-cone dystrophy Brachydactyly Downslanted[mendelian.co]

  • High Myopia-Sensorineural Deafness Syndrome

    Facial dysmorphism is specific, including a severe hypertelorism with downslanting palpebral fissures, a short bulbous nose, and posteriorly rotated ears.[cags.org.ae] palpebral fissures (the horizontal slit of the eye is slanted downward), iris coloboma (a hole, usually keyshaped in the eye), retinal detachment, a short bulbous nose, and[musicboys.wordpress.com] palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of internal organs causing pulmonary hypoplasia and death[cags.org.ae]

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