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57 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Thin Lips

  • 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] Abnormalities of the mouth and jaw may be present including an abnormally small mouth, a short, thin upper lip, a highly arched roof of the mouth (palate), an underdeveloped[rarediseases.org]

  • 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] […] calvarium Thin cranial bone 0010539 Thin ribs Slender ribs 0000883 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wormian bones Extra bones within[rarediseases.info.nih.gov]

  • 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] , small nose, long philtrum, thin upper lip Morillo-Cucci: short stature, mental retardation; unusual face Hypertelorism, ptosis, myopia, strabismus, antimongoloid palpebral[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]

  • 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] lip, stubby hands and feet, hirsutism, and severe psychomotor retardation.[ncbi.nlm.nih.gov]

  • Cornelia De Lange Syndrome

    palpebral fissures, and downturned corners of the mouth.[aadmd.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] Symptoms Children with CdLS are born with distinct facial features characterized by long eyelashes, thin lips, typically thick eyebrows that join at midline, low set ears[symptoma.com]

  • 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] Focus on the craniofacial system should include an evaluation for PRS, EAC stenosis, prominent nose, thin upper lip, and asymmetric facies ( Fig 7 ).[ajnr.org]

  • 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] […] volume of lip Thin lips [ more ] 0000233 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth[rarediseases.info.nih.gov] 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]

  • 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] lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys.[mendelian.co]

  • 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] […] upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Percent of people who have these symptoms[rarediseases.info.nih.gov]

  • Craniosytosis Mental Retardation Syndrome of Lin and Gettig

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Feeding difficulties in infancy[rarediseases.info.nih.gov] […] eye lashes, ptosis, high nasal bridge with large nose, thick helices and ear lobule, mild micrognathia, cupid bow mouth Cleft palate, gastroesophageal reflux, hand and foot[thieme-connect.com] Differential diagnosis Children with JS share some clinical features (short stature, short, wide, sometimes webbed neck, downslanting palpebral fissures, ptosis, aortic or[ojrd.biomedcentral.com]

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