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474 Possible Causes for Upslanting Palpebral Fissures

  • Carpenter-Waziri Syndrome

    palpebral fissure ; Vesicoureteral reflux ; Vomiting ; Wide mouth ; Wide nasal bridge ; Widely-spaced maxillary central incisors ; X-linked recessive inheritance Associated[mousephenotype.org] palpebral fissure Cerebellar hypoplasia Talipes equinovarus Inability to walk Wide mouth Breast aplasia Dislocated radial head Broad palm Abnormality of immune system physiology[mendelian.co] […] equinovarus ; Tapered finger ; Tented upper lip vermilion ; Thick lower lip vermilion ; Thin upper lip vermilion ; Triangular nasal tip ; U-Shaped upper lip vermilion ; Upslanted[mousephenotype.org]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org]

  • Kaufman Oculocerebrofacial Syndrome

    palpebral fissures, depressed nasal bridge. and anteverted nares.[ncbi.nlm.nih.gov] Upslanted palpebral fissure Mongoloid slant, Upward slanting palpebral fissures, Upslanting palpebral fissures, Upward slanting of the opening between the eyelids, Upward[rarediseases.oscar.ncsu.edu] […] of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech.[malacards.org]

  • Renpenning Syndrome 1

    The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.[malacards.org] palpebral fissure ; Ventricular septal defect ; Wide nasal bridge ; X-linked recessive inheritance Associated Genes PQBP1 (Withdrawn symbols: MRX2, MRX55, MRXS3, MRXS8, RENS1[mousephenotype.org] Facial characteristics include narrow and tall craniofacies with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.[egl-eurofins.com]

  • X-Linked Intellectual Disability Type Nascimento

    palpebral fissure ... ...[familydiagnosis.com] palpebral fissure ; Wide intermamillary distance ; Wide mouth ; X-linked recessive inheritance Associated Genes UBE2A (Withdrawn symbols: HHR6A, RAD6A, UBC2 ) Mouse Orthologs[mousephenotype.org] He had thick eyebrows, synophrys, upslanting palpebral fissures, light-green iris, a short nose, prominent chin and low-set ears, crowded teeth, highly arched feet, and a[ojrd.biomedcentral.com]

  • Miller Dieker Syndrome

    palpebral fissures, protuberant upper lip, thin vermilion border of upper lip, and micrognathia (Figure 47.1 [B]).[pediatricneuro.com] Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies.[epilepsydiagnosis.org] […] facial features: microcephaly with bitemporal narrowing, vertical ridging and furrowing in the central forehead (especially when crying), small nose with antiverted nostrils, upslanting[pediatricneuro.com]

  • Wiedemann-Rautenstrauch Syndrome

    palpebral fissure Upward slanting of the opening between the eyelids 0000582 Widely patent fontanelles and sutures 0004492 30%-79% of people have these symptoms Acanthosis[rarediseases.info.nih.gov] […] scalp hair [ more ] 0002209 Thin upper lip vermilion Thin upper lip 0000219 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Upslanted[rarediseases.info.nih.gov]

  • Blepharofacioskeletal Syndrome

    palpebral fissures, and subhand.[docme.ru] Upslanted palpebral fissure MedGen UID: 98390 • Concept ID: C0423109 • Finding The palpebral fissure inclination is more than two standard deviations above the mean for age[ncbi.nlm.nih.gov] palpebral fissure Posteriorly rotated ears Bronchomalacia Need help with a diagnosis?[mendelian.co]

  • Camptodactyly Syndrome Type Guadalajara 1

    palpebral fissure Upward slanting of the opening between the eyelids 0000582 Wormian bones Extra bones within cranial sutures 0002645[rarediseases.info.nih.gov] palpebral fissure 20% Posteriorly rotated ears 20% Bifid uvula 20% Wide mouth 20% Scapular winging 20% Microtia 20% Short foot 20% Wormian bones 20% Metatarsus adductus 20%[mendelian.co] […] occulta 0003298 Tubular metacarpal bones Cylindrical shaped long bones of hand 0006166 Twelfth rib hypoplasia Small twelfth rib Underdeveloped twelfth rib [ more ] 0006668 Upslanted[rarediseases.info.nih.gov]

  • Progeroid Facial Appearance with Hand Anomalies

    palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[clinicalgate.com] fissures Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging (113620) Upslanting palpebral fissures, telecanthus[clinicalgate.com] palpebral fissures, epicanthal folds, cataracts, nystagmus Mucolipidosis IV (252650) Corneal clouding, corneal opacities, fibrous dysplasia of the cornea, progressive retinal[clinicalgate.com]

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