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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.[] 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[] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[]

  • Cerebro-Facio-Thoracic Dysplasia

    Otherfindings included abdominal recti muscle diastasis anddorsolumbar scoliosis.[] , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[] […] 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[]

  • 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[] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[] All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities.[]

  • 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.[] palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[] […] 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[]

  • 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[] Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[]

  • Wiedemann-Steiner Syndrome

    The family decided to take fetal reduction surgery to remove the fetus with scoliosis.[] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight[] 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[]

  • Hallermann-Streiff Syndrome

    ) systemic dislocations Larsen syndrome head, face, spine and chest : skull, face and jaw ( Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly ) - spine Scoliosis[] The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[]

  • Distal Symphalangism

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

  • 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[] fissure Micropenis Low-set ears Syndactyly Pica Nail dystrophy Nail dysplasia Microdontia Scoliosis Anteverted nares Micrognathia Downslanted palpebral fissures Intellectual[] 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[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] acheiropody achondrogenesis achondroplasia acrocapitofemoral dysplasia acrodysostosis Acrodysplasia Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature,[] palpebral fissures Radioulnar synostosis Long philtrum Delayed ossification of carpal bones Small epiphyses Cerebral atrophy Upslanted palpebral fissure Sparse scalp hair[] […] 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).[]

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