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869 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Old Order Amish and Turkish Patients Reported

  • 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]

  • Rubinstein-Taybi Syndrome

    She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad[ncbi.nlm.nih.gov] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate[ctgt.net]

    Missing: Old Order Amish and Turkish Patients Reported
  • Wiedemann-Steiner Syndrome

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight[rarediseases.info.nih.gov] Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org] […] delay [ more ] 0000750 Depressed nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted[rarediseases.info.nih.gov]

    Missing: Old Order Amish and Turkish Patients Reported
  • Acrootoocular Syndrome

    Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[orpha.net] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.com] palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of[mousephenotype.org]

    Missing: Old Order Amish and Turkish Patients Reported
  • Acrorenal Mandibular Syndrome

    palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[malacards.org] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com] Synopsis craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly[humpath.com]

    Missing: Old Order Amish and Turkish Patients Reported
  • Autosomal-Recessive Robinow Syndrome

    palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism[mousephenotype.org] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[csbg.cnb.csic.es] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Duplication of the distal phalanx of hand Duplication of the outermost bone of hand Notched[rarediseases.info.nih.gov]

    Missing: Old Order Amish and Turkish Patients Reported
  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    fissure Micropenis Low-set ears Syndactyly Pica Nail dystrophy Nail dysplasia Microdontia Scoliosis Anteverted nares Micrognathia Downslanted palpebral fissures Intellectual[mendelian.co] palpebral fissures 3/6 7/9 - Epicanthi 5/7 2/9 Dysmorphic nose 6/6 6/9 High arched palate 5/6 3/9 - - Abnormal ears 2/6 7/9 Micrognathia 3/6 8/9 - Congenital heart defect[medcraveonline.com] Facial characteristics included a prominent forehead, up-swept frontal hairline, downslanting palpebral fissures, ocularhypertelorism, and small prominent ears with a simplified[documents.tips]

    Missing: Old Order Amish and Turkish Patients Reported
  • Hallermann-Streiff Syndrome

    The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[iovs.arvojournals.org] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[encyclopedia.com] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Dry skin 0000958 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [[rarediseases.info.nih.gov]

    Missing: Old Order Amish and Turkish Patients Reported
  • Arterial Tortuosity Syndrome

    A, Downslanting palpebral fissures and lax skin with prominent anterior axillary skin folds (arrow). B, Extreme laxity of skin fold is demonstrated. Figure 2.[circ.ahajournals.org] palpebral fissures, high arched palate, micrognathia, dental crowding Zebrafish have been shown to be a good model of SLC2A10.[epostersonline.com] palpebral fissures ); a beaked nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw ( micrognathia ); and large ears.[ghr.nlm.nih.gov]

    Missing: Long Lashes Old Order Amish and Turkish Patients Reported
  • Lytic Bone Lesion

    palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism[csbg.cnb.csic.es] […] eyebrows and lashes, prominent supraorbital ridges, hyper- telorism, micrognathia, highly arched palate, hick tongue, and stenotic ear canals (Fig. 1).[docslide.net] 80%-99% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Decreased skull ossification Decreased bone formation of skull 0004331 Downslanted palpebral[rarediseases.info.nih.gov]

    Missing: Old Order Amish and Turkish Patients Reported

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