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59 Possible Causes for Cataract, Downslanting Palpebral Fissures, Long Lashes

  • Rubinstein-Taybi Syndrome

    Two patients had presenile or secondary cataracts.[bjo.bmj.com] 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]

  • Hallermann-Streiff Syndrome

    To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Case report.[ncbi.nlm.nih.gov] 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]

  • Acrootoocular Syndrome

    Types Cataract, Lamellar Cataract, Marner Type CTRCT5 CAM 116800 Genetic Test Registry Cataract 6, Multiple Types Cataract, Age-Related Cortical, 2 Cataract, Posterior Polar[ukgtn.nhs.uk] 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]

  • Cerebro-Facio-Thoracic Dysplasia

    Syndrome Cataract-Dental Syndrome Cataract-Hypertrichosis-Mental Retardation (Cahmr) Syndrome Cataract-Mental Retardation-Hypogonadism Syndrome Cataract-Motor System Disorder-Short[neo-genetics.com] , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] 2 Cataract 22 2 Cataract 23 3 Cataract 3 2 Cataract 30 1 Cataract 31 1 Cataract 33 2 Cataract 36 1 Cataract 38 2 Cataract 39 2 Cataract 4 1 Cataract 41 1 Cataract 47 1 Cataract[preventiongenetics.com]

  • Rothmund Thomson Syndrome

    […] human disease Congenital poikiloderma RTS Rothmund-Thomson syndrome (disorder) ROTHMUND-THOMSON SYNDROME Poikiloderma Atrophicans and Cataract ROTHMUND-THOMSON SYNDROME; RTS[wikidata.org] Infants with BGS may also have a protruding forehead; downslanting eyelid folds (palpebral fissures), small, malformed (dysplastic), low-set ears, and/or other craniofacial[rarediseases.org] On external examination, bilateral, thick, long cilia with extra rows of lashes extending onto the eyelid skin were present (Fig 1).[healio.com]

  • Warburg Micro Syndrome 3

    Differential diagnosis Micro syndrome should be considered in any infant with congenital cataract.[rarediseases.info.nih.gov] palpebral fissures - dental malocclusion - growth retardation - respiratory disorders during sleep (80 %): especially obstructive and non-obstructive apneas - disorders of[sites.uclouvain.be] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Acrorenal Mandibular Syndrome

    Eye abnormalities : Cataract, coloboma of the iris and asymmetric pupils.[diki.pl] 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]

  • Wiedemann-Steiner Syndrome

    Clin Dysmorphol 2000 Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome Temtamy et al. Am J Med Genet 1991[pubfacts.com] 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]

  • Microcornea

    […] systemic anomaly or dysmorphism Cataract microcornea syndrome Microcornea cataract syndrome edit English Cataract-microcornea syndrome Cataract-microcornea syndrome is characterized[wikidata.org] palpebral fissures Retinal dysplasia Mild global developmental delay Abnormal pupil morphology Abnormal localization of kidney Peripheral axonal neuropathy Bilateral cryptorchidism[mendelian.co] , long arcuate eye lashes, microcornea, astigmatism, and nystagmus which was consistent with the findings reported by Jaffe et al . [8] Most common posterior segment finding[ojoonline.org]

  • Amaurosis-Hypertrichosis Syndrome

    Rare diseases terms are either (1) terms congenital dominant non nuclear; cataract congenital volkmann type; cataract dental syndrome; cataract hutterite type; cataract hypertrichosis[gilota.xpg.uol.com.br] palpebral fissures Epicanthus Abnormality of the tongue Need help with a diagnosis?[mendelian.co] Terminal hair, the third type, is on the scalp and forms the eyebrows and lashes.[blogs.plos.org]

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