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45 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Polyhydramnios

  • 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] […] forehead Decreased width of the forehead 0000341 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Poliosis Patch of white hair White patch [ more ] 0002290 Polyhydramnios[rarediseases.info.nih.gov] .Table 1Seven reported cases of cerebrofaciothoracic dysplasiaClinical features Pascual-Castroviejo Philip Guion-Almeida Present reportHigh birth weight 2 2Consanguinity Polyhydramnios[docslide.com.br]

  • 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] Capillary hemangioma Strawberry birthmark 0005306 Finger syndactyly 0006101 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hip dysplasia 0001385 Keloids 0010562 Polyhydramnios[rarediseases.info.nih.gov]

  • 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] Decreased fetal movement Flexion contracture Generalized muscle weakness Pain Myopia Arthrogryposis multiplex congenita Difficulty walking Facial palsy Myopathic facies Polyhydramnios[mendelian.co]

  • 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] Temporal bone evaluation can reveal ossicular chain abnormalities. 44 Prenatal detection of polyhydramnios and micrognathia with a family history of Stickler syndrome should[ajnr.org]

  • 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] Kyphoscoliosis Macrotia Gait ataxia Acidosis Abnormal vertebral morphology Type I diabetes mellitus Tremor Prominent superficial veins Microtia Abnormality of the pinna Polyhydramnios[mendelian.co]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    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] Facial characteristics included a prominent forehead, up-swept frontal hairline, downslanting palpebral fissures, ocularhypertelorism, and small prominent ears with a simplified[docslide.com.br]

  • 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] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[checkorphan.org] […] behavior Large hands Reduced subcutaneous adipose tissue Autism Growth delay Abnormal facial shape Feeding difficulties Redundant skin Frontal bossing Abdominal distention Polyhydramnios[mendelian.co]

  • Cornelia De Lange Syndrome

    palpebral fissures, and downturned corners of the mouth.[aadmd.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] […] year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios[ncbi.nlm.nih.gov]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly[mendelian.co] […] eye lashes.[jisppd.com] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Seizures Seizure 0001250 Synophrys[rarediseases.info.nih.gov]

  • Short Palpebral Fissure

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Downslanted palpebral fissures and Brain atrophy, related[mendelian.co] Most affected people also experience eye problems, varying from colobomata of the lower eyelids and aplasia of lid lashes to short, down-slanting palpebral fissures , and[eng.ichacha.net] His neuromotor development was normal and hypertelorism, downslanting palpebral fissures , hypoplasia of right auricle, hypoplasia of the maxillary bones and narrow forehead[freethesaurus.com]

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