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31 Possible Causes for Delayed Closure of Fontanelles, Downslanting Palpebral Fissures, Long Lashes

  • 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] Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate[ctgt.net]

  • 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] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Duplication of the distal phalanx of hand Duplication of the outermost bone of hand Notched[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] However, unlike MOP our patient did not have prema- ture closure of the anterior fontanelle, multiple frac- tures, hepatosplenomegaly, and bone marrow failure [Loria-Cortes[documents.tips] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[en.wikibooks.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] Brachycephaly, frontal bossing, open lambdoidal and longitudinal sutures, and delayed closure of fontanelles are usually associated.[whonamedit.com] 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]

  • 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] […] with delayed closure, midface hypoplasia, mild microcephaly, short hard palate, small nose with flat nasal bridge, protruding tongue MSK - short metacarpals/phalanges, wide-spaced[quizlet.com] Synopsis craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly[humpath.com]

  • Progeroid Syndrome Type Petty

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth[rarediseases.info.nih.gov] closure of the anterior fontanelle Later than typical closing of soft spot of skull 0001476 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth[rarediseases.info.nih.gov] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[checkorphan.org]

  • Congenital Mandibular Hypoplasia

    palpebral fissures) Can have congenital heart defect (esp PDA) AR inheritance of Ch15 causing DNA fragility Feats: - short stature - telangiectatic erythema of the face ([quizlet.com] […] with delayed closure, midface hypoplasia, mild microcephaly, short hard palate, small nose with flat nasal bridge, protruding tongue MSK - short metacarpals/phalanges, wide-spaced[quizlet.com] […] 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]

  • Cornelia De Lange Syndrome

    palpebral fissures, and downturned corners of the mouth.[aadmd.org] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[ncbi.nlm.nih.gov] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu]

  • Rothmund Thomson Syndrome

    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] Stockton and Brendan Lee, Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption[doi.org] On external examination, bilateral, thick, long cilia with extra rows of lashes extending onto the eyelid skin were present (Fig 1).[healio.com]

  • Eyebrow Duplication - Syndactyly Syndrome

    palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears,[chr7.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] In addition, affected infants may have a characteristic facial appearance and downslanting eyelid openings (palpebral fissures).[rarediseases.org]

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