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43 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Microphthalmos

  • 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] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com]

  • 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] The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.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] Syndrome Coloboma-Microphthalmos-Hearing Loss-Hematuria-Cleft Lip/Palate Syndrome Complete Androgen Insensitivity Syndrome (Cais) Complete Androgen Resistance Syndrome Complete[neo-genetics.com] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[en.wikibooks.org]

  • 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] […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com]

  • 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] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.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] […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com]

  • Microcornea

    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] PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos.[ncbi.nlm.nih.gov]

  • Syndromic Microphthalmia 11

    palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[eyewiki.aao.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] Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com]

  • Roifman Syndrome

    palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[eyewiki.aao.org] […] philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ...[databases.lovd.nl] […] chorioretinopathy 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Cervical Spine Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos[rgd.mcw.edu]

  • Amaurosis-Hypertrichosis Syndrome

    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] Syndrome Coloboma-Microphthalmos-Hearing Loss-Hematuria-Cleft Lip/Palate Syndrome Complete Androgen Insensitivity Syndrome (Cais) Complete Androgen Resistance Syndrome Complete[neo-genetics.com]

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