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61 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Scoliosis

  • Rubinstein-Taybi Syndrome

    Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2.[ncbi.nlm.nih.gov] 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]

  • Cerebro-Facio-Thoracic Dysplasia

    Otherfindings included abdominal recti muscle diastasis anddorsolumbar scoliosis.[docslide.com.br] , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] […] ductus arteriosus 0001643 Pes planus Flat feet Flat foot [ more ] 0001763 Postnatal growth retardation Growth delay as children 0008897 Ptosis Drooping upper eyelid 0000508 Scoliosis[rarediseases.info.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    […] middle phalanx of the 5th finger ; Short neck ; Short nose ; Short palm ; Short stature ; Small hand ; Thin upper lip vermilion ; Thoracic hemivertebrae ; Thoracolumbar scoliosis[mousephenotype.org] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[csbg.cnb.csic.es] All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities.[uniprot.org]

  • Acrorenal Mandibular Syndrome

    Scoliosis, pectus carinatum, and abnormal number of ribs and vertebral size have been reported. Severe mandibular hypoplasia and low-set ears may be additional features.[accessanesthesiology.mhmedical.com] 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]

  • Acrootoocular Syndrome

    […] side [Figure 4] , posterior-anterior view revealed hypoplasia of the left mandible [Figure 5] and chest radiograph revealed right side shift of heart (dextrocardia) and scoliosis[indianjotol.org] 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]

  • Wiedemann-Steiner Syndrome

    The family decided to take fetal reduction surgery to remove the fetus with scoliosis.[ojrd.biomedcentral.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]

  • Hallermann-Streiff Syndrome

    ) systemic dislocations Larsen syndrome head, face, spine and chest : skull, face and jaw ( Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly ) - spine Scoliosis[wikidoc.org] 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]

  • Distal Symphalangism

    Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained.[ncbi.nlm.nih.gov] palpebral fissures Pectus excavatum Visual impairment Depressed nasal bridge Cataract Abnormal facial shape Ptosis Motor delay Sensorineural hearing impairment Micrognathia[mendelian.co] Delayed eruption of teeth Thin cortex of diaphyses Polydactyly - postaxial (ulnar)/type unspecified Long/large nose Missing permanent teeth/retained deciduous teeth Bowing[head-face-med.biomedcentral.com]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    13q Non-Rhizomelic Chondrodysplasia Punctata Ossified Ear Cartilages With Mental Deficiency, Muscle Wasting, And Bony Changes Piebaldism Radioulnar Synostosis-Microcephaly-Scoliosis[familydiagnosis.com] 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]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] acheiropody achondrogenesis achondroplasia acrocapitofemoral dysplasia acrodysostosis Acrodysplasia Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature,[rgd.mcw.edu] palpebral fissures Radioulnar synostosis Long philtrum Delayed ossification of carpal bones Small epiphyses Cerebral atrophy Upslanted palpebral fissure Sparse scalp hair[mendelian.co] […] eye lashes Oliver-McFarlane All the conditions are rare inherited diseases; the most frequent syndromes are Usher’s syndrome (USH) and Bardet-Biedl syndrome (BBS).[entokey.com]

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