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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[] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[]

  • Autosomal Dominant Spastic Paraplegia Type 8

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

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

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

  • 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[] Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional[]

  • 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[] Extracutaneous findings Neonates have a characteristic facial appearance consisting of a tall forehead, low posterior hairline, hypertelorism, downslanting palpebral fissures[] Macroglossia [ EoM Image ] Further information: Morphology of elements Thick lips High-arched palate Eyes Hypertelorism [ EoM Image ] Further information: Morphology of elements Downslanting[]

  • Dursun Syndrome

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

  • Cerebellar Hypoplasia and Atrophy

    palpebral fissures, related diseases and genetic alterations[] 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[]

  • Syndromic Microphthalmia 11

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

  • 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.[] palpebral fissures High palate Depressed nasal bridge Myopia Inguinal hernia Cognitive impairment Micrognathia Patent ductus arteriosus Tonsillitis Hernia Heterogeneous Polyhydramnios[] Hepatosplenomegaly Hypotrichosis Elevated alkaline phosphatase Abdominal distention Amblyopia Ventricular hypertrophy Pain Low posterior hairline Rod-cone dystrophy Brachydactyly Downslanted[]

  • 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.[] 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[] palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of internal organs causing pulmonary hypoplasia and death[]

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